المؤلفون: Reyna M. A., Haan D., Paczkowska M., Verbeke L. P. C., Vazquez M., Kahraman A., Pulido-Tamayo S., Barenboim J., Wadi L., Dhingra P., Shrestha R., Getz G., Lawrence M. S., Pedersen J. S., Rubin M. A., Wheeler D. A., Brunak S., Izarzugaza J. M. G., Khurana E., Marchal K., von Mering C., Sahinalp S. C., Valencia A., Abascal F., Amin S. B., Bader G. D., Bandopadhayay P., Beroukhim R., Bertl J., Boroevich K. A., Busanovich J., Campbell P. J., Carlevaro-Fita J., Chakravarty D., Chan C. W. Y., Chen K., Choi J. K., Deu-Pons J., Diamanti K., Feuerbach L., Fink J. L., Fonseca N. A., Frigola J., Gambacorti Passerini C., Garsed D. W., Gerstein M., Guo Q., Gut I. G., Hamilton M. P., Haradhvala N. J., Harmanci A. O., Helmy M., Herrmann C., Hess J. M., Hobolth A., Hodzic E., Hong C., Hornshoj H., Isaev K., Johnson R., Johnson T. A., Juul M., Juul R. I., Kahles A., Kellis M., Kim J., Kim J. K., Kim Y., Komorowski J., Korbel J. O., Kumar S., Lanzos A., Larsson E., Lee D., Lehmann K. -V., Li S., Li X., Lin Z., Liu E. M., Lochovsky L., Lou S., Madsen T., Martincorena I., Martinez-Fundichely A., Maruvka Y. E., McGillivray P. D., Meyerson W., Muinos F., Mularoni L., Nakagawa H., Nielsen M. M., Park K., Pons T., Reyes-Salazar I., Rheinbay E., Rubio-Perez C., Saksena G., Salichos L., Sander C., Schumacher S. E., Shackleton M., Shapira O., Shen C., Shuai S., Sidiropoulos N., Sieverling L., Sinnott-Armstrong N., Stein L. D., Tamborero D., Tiao G., Tsunoda T., Umer H. M., Uuskula-Reimand L., Wadelius C., Wang J., Warrell J., Waszak S. M., Weischenfeldt J., Wu G., Yu J., Zhang J., Zhang X., Zhang Y., Zhao Z., Zou L., Reimand J., Stuart J. M., Raphael B. J.

المساهمون: Reyna, M, Haan, D, Paczkowska, M, Verbeke, L, Vazquez, M, Kahraman, A, Pulido-Tamayo, S, Barenboim, J, Wadi, L, Dhingra, P, Shrestha, R, Getz, G, Lawrence, M, Pedersen, J, Rubin, M, Wheeler, D, Brunak, S, Izarzugaza, J, Khurana, E, Marchal, K, von Mering, C, Sahinalp, S, Valencia, A, Abascal, F, Amin, S, Bader, G, Bandopadhayay, P, Beroukhim, R, Bertl, J, Boroevich, K, Busanovich, J, Campbell, P, Carlevaro-Fita, J, Chakravarty, D, Chan, C, Chen, K, Choi, J, Deu-Pons, J, Diamanti, K, Feuerbach, L, Fink, J, Fonseca, N, Frigola, J, Gambacorti Passerini, C, Garsed, D, Gerstein, M, Guo, Q, Gut, I, Hamilton, M, Haradhvala, N, Harmanci, A, Helmy, M, Herrmann, C, Hess, J, Hobolth, A, Hodzic, E, Hong, C, Hornshoj, H, Isaev, K, Johnson, R, Johnson, T, Juul, M, Juul, R, Kahles, A, Kellis, M, Kim, J, Kim, Y, Komorowski, J, Korbel, J, Kumar, S, Lanzos, A, Larsson, E, Lee, D, Lehmann, K, Li, S, Li, X, Lin, Z, Liu, E, Lochovsky, L, Lou, S, Madsen, T, Martincorena, I, Martinez-Fundichely, A, Maruvka, Y, Mcgillivray, P, Meyerson, W, Muinos, F, Mularoni, L, Nakagawa, H, Nielsen, M, Park, K, Pons, T, Reyes-Salazar, I, Rheinbay, E, Rubio-Perez, C, Saksena, G, Salichos, L, Sander, C, Schumacher, S, Shackleton, M, Shapira, O, Shen, C, Shuai, S, Sidiropoulos, N, Sieverling, L, Sinnott-Armstrong, N, Stein, L, Tamborero, D, Tiao, G, Tsunoda, T, Umer, H, Uuskula-Reimand, L, Wadelius, C, Wang, J, Warrell, J, Waszak, S, Weischenfeldt, J, Wu, G, Yu, J, Zhang, J, Zhang, X, Zhang, Y, Zhao, Z, Zou, L, Reimand, J, Stuart, J, Raphael, B, Reyna, Matthew A [0000-0003-4688-7965], Verbeke, Lieven PC [0000-0003-1909-8119], Vazquez, Miguel [0000-0002-5713-1058], Kahraman, Abdullah [0000-0003-3523-4467], Shrestha, Raunak [0000-0002-1144-1413], Getz, Gad [0000-0002-0936-0753], Pedersen, Jakob Skou [0000-0002-7236-4001], Rubin, Mark A [0000-0002-8321-9950], Khurana, Ekta [0000-0002-4351-7566], Marchal, Kathleen [0000-0002-2169-4588], von Mering, Christian [0000-0001-7734-9102], Reimand, Jüri [0000-0002-2299-2309], Stuart, Joshua M [0000-0002-2171-565X], Raphael, Benjamin J [0000-0003-1274-048X], Apollo - University of Cambridge Repository

المصدر: Reyna, Matthew A; Haan, David; Paczkowska, Marta; Verbeke, Lieven P C; Vazquez, Miguel; Kahraman, Abdullah; Pulido-Tamayo, Sergio; Barenboim, Jonathan; Wadi, Lina; Dhingra, Priyanka; Shrestha, Raunak; Getz, Gad; Lawrence, Michael S; Pedersen, Jakob Skou; Rubin, Mark Andrew; Wheeler, David A; Brunak, Søren; Izarzugaza, Jose M G; Khurana, Ekta; Marchal, Kathleen; ... (2020). Pathway and network analysis of more than 2500 whole cancer genomes. Nature communications, 11(1), p. 729. Nature Publishing Group 10.1038/s41467-020-14367-0 <http://dx.doi.org/10.1038/s41467-020-14367-0Test>
Nature Communications, 11, 1
Nature communications, vol 11, iss 1
Reyna, M A, Haan, D, Paczkowska, M, Verbeke, L P C, Vazquez, M, Kahraman, A, Pulido-Tamayo, S, Barenboim, J, Wadi, L, Dhingra, P, Shrestha, R, Getz, G, Lawrence, M S, Pedersen, J S, Rubin, M A, Wheeler, D A, Brunak, S, Izarzugaza, J M G, Khurana, E, Marchal, K, von Mering, C, Sahinalp, S C, Valencia, A, PCAWG Drivers and Functional Interpretation Working Group, Reimand, J, Stewart, J, Raphael, B & PCAWG Consortium 2020, ' Pathway and network analysis of more than 2500 whole cancer genomes ', Nature Communications, vol. 11, no. 1, 729 . https://doi.org/10.1038/s41467-020-14367-0Test
NATURE COMMUNICATIONS
Nature Communications
Nature Communications, 11 (1)
Nature Communications, Vol 11, Iss 1, Pp 1-17 (2020)
Nature Communications, 11
Reyna, M A, Haan, D, Paczkowska, M, Verbeke, L P C, Vazquez, M, Kahraman, A, Pulido-Tamayo, S, Barenboim, J, Wadi, L, Dhingra, P, Shrestha, R, Getz, G, Lawrence, M S, Pedersen, J S, Rubin, M A, Wheeler, D A, Brunak, S, Izarzugaza, J M G, Khurana, E, Marchal, K, von Mering, C, Sahinalp, S C, Valencia, A, Abascal, F, Amin, S B, Bader, G D, Bandopadhayay, P, Beroukhim, R, Bertl, J, Boroevich, K A, Busanovich, J, Campbell, P J, Carlevaro-Fita, J, Chakravarty, D, Chan, C W Y, Chen, K, Choi, J K, Deu-Pons, J, Diamanti, K, Feuerbach, L, Fink, J L, Fonseca, N A, Frigola, J, Gambacorti-Passerini, C, Garsed, D W, Gerstein, M, Larsson, E, Nielsen, M M, Sidiropoulos, N, Weischenfeldt, J, PCAWG Drivers and Functional Interpretation Working Group & PCAWG Consortium 2020, ' Pathway and network analysis of more than 2500 whole cancer genomes ', Nature Communications, vol. 11, no. 1, 729, pp. 1-17 . https://doi.org/10.1038/s41467-020-14367-0Test
Reyna, M A, Haan, D, Paczkowska, M, Verbeke, L P C, Vazquez, M, Kahraman, A, Pulido-Tamayo, S, Barenboim, J, Wadi, L, Dhingra, P, Shrestha, R, Getz, G, Lawrence, M S, Pedersen, J S, Rubin, M A, Wheeler, D A, Brunak, S, Izarzugaza, J M G, Khurana, E, Marchal, K, von Mering, C, Sahinalp, S C, Valencia, A, Reimand, J, Stuart, J M & Raphael, B J 2020, ' Pathway and network analysis of more than 2500 whole cancer genomes ', Nature Communications, vol. 11, no. 1, 729 . https://doi.org/10.1038/s41467-020-14367-0Test

مصطلحات موضوعية: 0301 basic medicine, Medizin, General Physics and Astronomy, medicine.disease_cause, Genome, 0302 clinical medicine, PCAWG Drivers and Functional Interpretation Working Group, Neoplasms, Databases, Genetic, Cancer genomics, Medicine and Health Sciences, 2.1 Biological and endogenous factors, Aetiology, lcsh:Science, Càncer, Promoter Regions, Genetic, health care economics and organizations, Cancer, Genetics, Mutation, Multidisciplinary, Women's cancers Radboud Institute for Molecular Life Sciences [Radboudumc 17], 3. Good health, Women's cancers Radboud Institute for Health Sciences [Radboudumc 17], TERT PROMOTER MUTATIONS, Gene Expression Regulation, Neoplastic, 030220 oncology & carcinogenesis, RNA splicing, Medical Genetics, Metabolic Networks and Pathways, Human, Biotechnology, EXPRESSION, RNA Splicing Factors, Cellular signalling networks, GENES, PROTEINS, Science, RNA Splicing, 610 Medicine & health, Biology, Article, General Biochemistry, Genetics and Molecular Biology, Chromatin remodeling, Promoter Regions, 03 medical and health sciences, Databases, Rare Diseases, SDG 3 - Good Health and Well-being, Genetic, medicine, Humans, Gene, Medicinsk genetik, Whole genome sequencing, Neoplastic, Genome, Human, Human Genome, Biology and Life Sciences, PCAWG Consortium, Computational Biology, TLE4, SOMATIC MUTATIONS, General Chemistry, medicine.disease, Chromatin Assembly and Disassembly, ENCYCLOPEDIA, Genòmica, 030104 developmental biology, Gene Expression Regulation, DISCOVERY, lcsh:Q, Genètica, protein-coding genes, Mutation, genome sequencing, RNA splicing, cancer genomes

الوصف: The catalog of cancer driver mutations in protein-coding genes has greatly expanded in the past decade. However, non-coding cancer driver mutations are less well-characterized and only a handful of recurrent non-coding mutations, most notably TERT promoter mutations, have been reported. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, which aggregated whole genome sequencing data from 2658 cancer across 38 tumor types, we perform multi-faceted pathway and network analyses of non-coding mutations across 2583 whole cancer genomes from 27 tumor types compiled by the ICGC/TCGA PCAWG project that was motivated by the success of pathway and network analyses in prioritizing rare mutations in protein-coding genes. While few non-coding genomic elements are recurrently mutated in this cohort, we identify 93 genes harboring non-coding mutations that cluster into several modules of interacting proteins. Among these are promoter mutations associated with reduced mRNA expression in TP53, TLE4, and TCF4. We find that biological processes had variable proportions of coding and non-coding mutations, with chromatin remodeling and proliferation pathways altered primarily by coding mutations, while developmental pathways, including Wnt and Notch, altered by both coding and non-coding mutations. RNA splicing is primarily altered by non-coding mutations in this cohort, and samples containing non-coding mutations in well-known RNA splicing factors exhibit similar gene expression signatures as samples with coding mutations in these genes. These analyses contribute a new repertoire of possible cancer genes and mechanisms that are altered by non-coding mutations and offer insights into additional cancer vulnerabilities that can be investigated for potential therapeutic treatments.
Understanding deregulation of biological pathways in cancer can provide insight into disease etiology and potential therapies. Here, as part of the PanCancer Analysis of Whole Genomes (PCAWG) consortium, the authors present pathway and network analysis of 2583 whole cancer genomes from 27 tumour types.

وصف الملف: application/pdf; application/application/pdf; text/xml; application/zip

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ab9bdc4055f3e9c174d4c3aed78c672Test
https://boris.unibe.ch/146112/1/41467_2020_Article_14367.pdfTest

المؤلفون: Shuai S., Abascal F., Amin S. B., Bader G. D., Bandopadhayay P., Barenboim J., Beroukhim R., Bertl J., Boroevich K. A., Brunak S., Campbell P. J., Carlevaro-Fita J., Chakravarty D., Chan C. W. Y., Chen K., Choi J. K., Deu-Pons J., Dhingra P., Diamanti K., Feuerbach L., Fink J. L., Fonseca N. A., Frigola J., Gambacorti Passerini C., Garsed D. W., Gerstein M., Getz G., Guo Q., Gut I. G., Haan D., Hamilton M. P., Haradhvala N. J., Harmanci A. O., Helmy M., Herrmann C., Hess J. M., Hobolth A., Hodzic E., Hong C., Hornshoj H., Isaev K., Izarzugaza J. M. G., Johnson R., Johnson T. A., Juul M., Juul R. I., Kahles A., Kahraman A., Kellis M., Khurana E., Kim J., Kim J. K., Kim Y., Komorowski J., Korbel J. O., Kumar S., Lanzos A., Larsson E., Lawrence M. S., Lee D., Lehmann K. -V., Li S., Li X., Lin Z., Liu E. M., Lochovsky L., Lou S., Madsen T., Marchal K., Martincorena I., Martinez-Fundichely A., Maruvka Y. E., McGillivray P. D., Meyerson W., Muinos F., Mularoni L., Nakagawa H., Nielsen M. M., Paczkowska M., Park K., Pedersen J. S., Pons T., Pulido-Tamayo S., Raphael B. J., Reimand J., Reyes-Salazar I., Reyna M. A., Rheinbay E., Rubin M. A., Rubio-Perez C., Sahinalp S. C., Saksena G., Salichos L., Sander C., Schumacher S. E., Shackleton M., Shapira O., Shen C., Shrestha R., Sidiropoulos N., Sieverling L., Sinnott-Armstrong N., Stein L. D., Stuart J. M., Tamborero D., Tiao G., Tsunoda T., Umer H. M., Uuskula-Reimand L., Valencia A., Vazquez M., Verbeke L. P. C., Wadelius C., Wadi L., Wang J., Warrell J., Waszak S. M., Weischenfeldt J., Wheeler D. A., Wu G., Yu J., Zhang J., Zhang X., Zhang Y., Zhao Z., Zou L., von Mering C., Gallinger S., Stein L.

المساهمون: Shuai, Shimin [0000-0002-9527-8018], Apollo - University of Cambridge Repository, Shuai, S, Abascal, F, Amin, S, Bader, G, Bandopadhayay, P, Barenboim, J, Beroukhim, R, Bertl, J, Boroevich, K, Brunak, S, Campbell, P, Carlevaro-Fita, J, Chakravarty, D, Chan, C, Chen, K, Choi, J, Deu-Pons, J, Dhingra, P, Diamanti, K, Feuerbach, L, Fink, J, Fonseca, N, Frigola, J, Gambacorti Passerini, C, Garsed, D, Gerstein, M, Getz, G, Guo, Q, Gut, I, Haan, D, Hamilton, M, Haradhvala, N, Harmanci, A, Helmy, M, Herrmann, C, Hess, J, Hobolth, A, Hodzic, E, Hong, C, Hornshoj, H, Isaev, K, Izarzugaza, J, Johnson, R, Johnson, T, Juul, M, Juul, R, Kahles, A, Kahraman, A, Kellis, M, Khurana, E, Kim, J, Kim, Y, Komorowski, J, Korbel, J, Kumar, S, Lanzos, A, Larsson, E, Lawrence, M, Lee, D, Lehmann, K, Li, S, Li, X, Lin, Z, Liu, E, Lochovsky, L, Lou, S, Madsen, T, Marchal, K, Martincorena, I, Martinez-Fundichely, A, Maruvka, Y, Mcgillivray, P, Meyerson, W, Muinos, F, Mularoni, L, Nakagawa, H, Nielsen, M, Paczkowska, M, Park, K, Pedersen, J, Pons, T, Pulido-Tamayo, S, Raphael, B, Reimand, J, Reyes-Salazar, I, Reyna, M, Rheinbay, E, Rubin, M, Rubio-Perez, C, Sahinalp, S, Saksena, G, Salichos, L, Sander, C, Schumacher, S, Shackleton, M, Shapira, O, Shen, C, Shrestha, R, Sidiropoulos, N, Sieverling, L, Sinnott-Armstrong, N, Stein, L, Stuart, J, Tamborero, D, Tiao, G, Tsunoda, T, Umer, H, Uuskula-Reimand, L, Valencia, A, Vazquez, M, Verbeke, L, Wadelius, C, Wadi, L, Wang, J, Warrell, J, Waszak, S, Weischenfeldt, J, Wheeler, D, Wu, G, Yu, J, Zhang, J, Zhang, X, Zhang, Y, Zhao, Z, Zou, L, von Mering, C, Gallinger, S

المصدر: Nature Communications
Nature Communications, Vol 11, Iss 1, Pp 1-12 (2020)
Shuai, S, Abascal, F, Amin, S B, Bader, G D, Bandopadhayay, P, Barenboim, J, Beroukhim, R, Bertl, J, Boroevich, K A, Brunak, S, Campbell, P J, Carlevaro-Fita, J, Chakravarty, D, Chan, C W Y, Chen, K, Choi, J K, Deu-Pons, J, Dhingra, P, Diamanti, K, Feuerbach, L, Fink, J L, Fonseca, N A, Frigola, J, Gambacorti-Passerini, C, Garsed, D W, Gerstein, M, Getz, G, Guo, Q, Gut, I G, Haan, D, Hamilton, M P, Haradhvala, N J, Harmanci, A O, Helmy, M, Herrmann, C, Hess, J M, Hobolth, A, Hodzic, E, Hong, C, Hornshøj, H, Isaev, K, Izarzugaza, J M G, Johnson, R, Johnson, T A, Juul, M, Juul, R I, Kahles, A, Pedersen, J S, Sidiropoulos, N, Weischenfeldt, J, PCAWG Drivers and Functional Interpretation Working Group & PCAWG Consortium 2020, ' Combined burden and functional impact tests for cancer driver discovery using DriverPower ', Nature Communications, vol. 11, no. 1, 734 . https://doi.org/10.1038/s41467-019-13929-1Test
Nature Communications, 11 (1)
Nature Communications, 11
Nature Communications, 11, 1
Nature communications, vol 11, iss 1
Shuai, Shimin; Gallinger, Steven; Stein, Lincoln (2020). Combined burden and functional impact tests for cancer driver discovery using DriverPower. Nature communications, 11(1), p. 734. Nature Publishing Group 10.1038/s41467-019-13929-1 <http://dx.doi.org/10.1038/s41467-019-13929-1Test>
Shuai, S, PCAWG Drivers and Functional Interpretation Working Group, Gallinger, S, Stein, L & PCAWG Consortium 2020, ' Combined burden and functional impact tests for cancer driver discovery using DriverPower ', Nature Communications, vol. 11, no. 1, 734 . https://doi.org/10.1038/s41467-019-13929-1Test
NATURE COMMUNICATIONS

مصطلحات موضوعية: 0301 basic medicine, Cancer genome sequencing, Mutation rate, Medizin, General Physics and Astronomy, VARIANTS, Genome, Receptors, G-Protein-Coupled, 0302 clinical medicine, Peptide Elongation Factor 1, PCAWG Drivers and Functional Interpretation Working Group, Mutation Rate, Neoplasms, BINDING, Receptors, Medicine and Health Sciences, HETEROGENEITY, RECURRENT, Càncer, lcsh:Science, 610 Medicine & health, Cancer, Multidisciplinary, Women's cancers Radboud Institute for Molecular Life Sciences [Radboudumc 17], MEF2 Transcription Factors, Genomics, Women's cancers Radboud Institute for Health Sciences [Radboudumc 17], 030220 oncology & carcinogenesis, F1 score, Medical Genetics, Medical genomics, Algorithms, Human, EXPRESSION, ACETYLATION, SOMATIC MUTATION, Science, Computational biology, Biology, General Biochemistry, Genetics and Molecular Biology, Article, 03 medical and health sciences, G-Protein-Coupled, Germline mutation, Genetics, Humans, Genomes, MOF, Medicinsk genetik, Whole genome sequencing, Whole Genome Sequencing, Genome, Human, Human Genome, Biology and Life Sciences, PCAWG Consortium, General Chemistry, Oncogenes, 030104 developmental biology, Good Health and Well Being, Mutation, CHROMATIN ORGANIZATION, cancer genome sequencing, DriverPower, Software, MEF2 Transcription Factors, Neoplasms, Mutation Rate, lcsh:Q, PATHOGENICITY, Software, Coding (social sciences)

الوصف: The discovery of driver mutations is one of the key motivations for cancer genome sequencing. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, which aggregated whole genome sequencing data from 2658 cancers across 38 tumour types, we describe DriverPower, a software package that uses mutational burden and functional impact evidence to identify driver mutations in coding and non-coding sites within cancer whole genomes. Using a total of 1373 genomic features derived from public sources, DriverPower’s background mutation model explains up to 93% of the regional variance in the mutation rate across multiple tumour types. By incorporating functional impact scores, we are able to further increase the accuracy of driver discovery. Testing across a collection of 2583 cancer genomes from the PCAWG project, DriverPower identifies 217 coding and 95 non-coding driver candidates. Comparing to six published methods used by the PCAWG Drivers and Functional Interpretation Working Group, DriverPower has the highest F1 score for both coding and non-coding driver discovery. This demonstrates that DriverPower is an effective framework for computational driver discovery.
Nature Communications, 11 (1)
ISSN:2041-1723

وصف الملف: application/pdf; application/application/pdf; application/zip; text/xml

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a66b76677d0b16adc338a5e2ae7f60b2Test
http://europepmc.org/articles/PMC7002750Test

المؤلفون: Bailey M. H., Meyerson W. U., Dursi L. J., Wang L. -B., Dong G., Liang W. -W., Weerasinghe A., Li S., Li Y., Kelso S., Akbani R., Anur P., Buchanan A., Chiotti K., Covington K., Creason A., Ding L., Ellrott K., Fan Y., Foltz S., Getz G., Hale W., Haussler D., Hess J. M., Hutter C. M., Kandoth C., Kasaian K., Kasapi M., Larson D., Leshchiner I., Letaw J., Ma S., McLellan M. D., Men Y., Mills G. B., Niu B., Peto M., Radenbaugh A., Reynolds S. M., Saksena G., Sofia H., Stewart C., Struck A. J., Stuart J. M., Wang W., Weinstein J. N., Wheeler D. A., Wong C. K., Xi L., Ye K., Bieg M., Boutros P. C., Buchhalter I., Butler A. P., Chen K., Chong Z., Drechsel O., Jonathan Dursi L., Eils R., Espiritu S. M. G., Fulton R. S., Gao S., Gelpi J. L., Gerstein M. B., Gonzalez S., Gut I. G., Hach F., Heinold M. C., Hinton J., Hu T., Huang V., Huang Y., Hutter B., Jones D. R., Jung J., Jager N., Kim H. -L., Kleinheinz K., Kumar S., Kumar Y., Lalansingh C. M., Letunic I., Livitz D., Ma E. Z., Maruvka Y. E., Mashl R. J., Menzies A., Milovanovic A., Nielsen M. M., Ossowski S., Paramasivam N., Pedersen J. S., Perry M. D., Puiggros M., Raine K. M., Rheinbay E., Royo R., Sahinalp S. C., Sarrafi I., Schlesner M., Simpson J. T., Stebbings L., Stobbe M. D., Teague J. W., Tiao G., Torrents D., Wala J. A., Wang J., Waszak S. M., Weischenfeldt J., Wendl M. C., Werner J., Wu Z., Xue H., Yakneen S., Yamaguchi T. N., Yellapantula V. D., Yung C. K., Zhang J., Aaltonen L. A., Abascal F., Abeshouse A., Aburatani H., Adams D. J., Agrawal N., Ahn K. S., Ahn S. -M., Aikata H., Akdemir K. C., Al-Ahmadie H., Al-Sedairy S. T., Al-Shahrour F., Alawi M., Albert M., Aldape K., Alexandrov L. B., Ally A., Alsop K., Alvarez E. G., Amary F., Amin S. B., Aminou B., Ammerpohl O., Anderson M. J., Ang Y., Antonello D., Aparicio S., Appelbaum E. L., Arai Y., Aretz A., Arihiro K., Ariizumi S. -I., Armenia J., Arnould L., Asa S., Assenov Y., Atwal G., Aukema S., Auman J. T., Aure M. R., Awadalla P., Aymerich M., Bader G. D., Baez-Ortega A., Bailey P. J., Balasundaram M., Balu S., Bandopadhayay P., Banks R. E., Barbi S., Barbour A. P., Barenboim J., Barnholtz-Sloan J., Barr H., Barrera E., Bartlett J., Bartolome J., Bassi C., Bathe O. F., Baumhoer D., Bavi P., Baylin S. B., Bazant W., Beardsmore D., Beck T. A., Behjati S., Behren A., Bell C., Beltran S., Benz C., Berchuck A., Bergmann A. K., Bergstrom E. N., Berman B. P., Berney D. M., Bernhart S. H., Beroukhim R., Berrios M., Bersani S., Bertl J., Betancourt M., Bhandari V., Bhosle S. G., Biankin A. V., Bigner D., Binder H., Birney E., Birrer M., Biswas N. K., Bjerkehagen B., Bodenheimer T., Boice L., Bonizzato G., De Bono J. S., Boot A., Bootwalla M. S., Borg A., Borkhardt A., Boroevich K. A., Borozan I., Borst C., Bosenberg M., Bosio M., Boultwood J., Bourque G., Bova G. S., Bowen D. T., Bowlby R., Bowtell D. D. L., Boyault S., Boyce R., Boyd J., Brazma A., Brennan P., Brewer D. S., Brinkman A. B., Bristow R. G., Broaddus R. R., Brock J. E., Brock M., Broeks A., Brooks A. N., Brooks D., Brors B., Brunak S., Bruxner T. J. C., Bruzos A. L., Buchholz C., Bullman S., Burke H., Burkhardt B., Burns K. H., Busanovich J., Bustamante C. D., Butte A. J., Byrne N. J., Borresen-Dale A. -L., Caesar-Johnson S. J., Cafferkey A., Cahill D., Calabrese C., Caldas C., Calvo F., Camacho N., Campbell P. J., Campo E., Cantu C., Cao S., Carey T. E., Carlevaro-Fita J., Carlsen R., Cataldo I., Cazzola M., Cebon J., Cerfolio R., Chadwick D. E., Chakravarty D., Chalmers D., Chan C. W. Y., Chan K., Chan-Seng-Yue M., Chandan V. S., Chang D. K., Chanock S. J., Chantrill L. A., Chateigner A., Chatterjee N., Chayama K., Chen H. -W., Chen J., Chen Y., Chen Z., Cherniack A. D., Chien J., Chiew Y. -E., Chin S. -F., Cho J., Cho S., Choi J. K., Choi W., Chomienne C., Choo S. P., Chou A., Christ A. N., Christie E. L., Chuah E., Cibulskis C., Cibulskis K., Cingarlini S., Clapham P., Claviez A., Cleary S., Cloonan N., Cmero M., Collins C. C., Connor A. A., Cooke S. L., Cooper C. S., Cope L., Corbo V., Cordes M. G., Cordner S. M., Cortes-Ciriano I., Cowin P. A., Craft B., Craft D., Creighton C. J., Cun Y., Curley E., Cutcutache I., Czajka K., Czerniak B., Dagg R. A., Danilova L., Davi M. V., Davidson N. R., Davies H., Davis I. J., Davis-Dusenbery B. N., Dawson K. J., De La Vega F. M., De Paoli-Iseppi R., Defreitas T., Dei Tos A. P., Delaneau O., Demchok J. A., Demeulemeester J., Demidov G. M., Demircioglu D., Dennis N. M., Denroche R. E., Dentro S. C., Desai N., Deshpande V., Deshwar A. G., Desmedt C., Deu-Pons J., Dhalla N., Dhani N. C., Dhingra P., Dhir R., DiBiase A., Diamanti K., Ding S., Dinh H. Q., Dirix L., Doddapaneni H. V., Donmez N., Dow M. T., Drapkin R., Drews R. M., Serge S., Dudderidge T., Dueso-Barroso A., Dunford A. J., Dunn M., Duthie F. R., Dutton-Regester K., Eagles J., Easton D. F., Edmonds S., Edwards P. A., Edwards S. E., Eeles R. A., Ehinger A., Eils J., El-Naggar A., Eldridge M., Erkek S., Escaramis G., Estivill X., Etemadmoghadam D., Eyfjord J. E., Faltas B. M., Fan D., Faquin W. C., Farcas C., Fassan M., Fatima A., Favero F., Fayzullaev N., Felau I., Fereday S., Ferguson M. L., Ferretti V., Feuerbach L., Field M. A., Fink J. L., Finocchiaro G., Fisher C., Fittall M. W., Fitzgerald A., Fitzgerald R. C., Flanagan A. M., Fleshner N. E., Flicek P., Foekens J. A., Fong K. M., Fonseca N. A., Foster C. S., Fox N. S., Fraser M., Frazer S., Frenkel-Morgenstern M., Friedman W., Frigola J., Fronick C. C., Fujimoto A., Fujita M., Fukayama M., Fulton L. A., Furuta M., Futreal P. A., Fullgrabe A., Gabriel S. B., Gallinger S., Gambacorti Passerini C., Gao J., Garraway L., Garred O., Garrison E., Garsed D. W., Gehlenborg N., George J., Gerhard D. S., Gerhauser C., Gershenwald J. E., Gerstung M., Ghori M., Ghossein R., Giama N. H., Gibbs R. A., Gill A. J., Gill P., Giri D. D., Glodzik D., Gnanapragasam V. J., Goebler M. E., Goldman M. J., Gomez C., Gonzalez-Perez A., Gordenin D. A., Gossage J., Gotoh K., Govindan R., Grabau D., Graham J. S., Grant R. C., Green A. R., Green E., Greger L., Grehan N., Grimaldi S., Grimmond S. M., Grossman R. L., Grundhoff A., Gundem G., Guo Q., Gupta M., Gupta S., Gut M., Goke J., Ha G., Haake A., Haan D., Haas S., Haase K., Haber J. E., Habermann N., Haider S., Hama N., Hamdy F. C., Hamilton A., Hamilton M. P., Han L., Hanna G. B., Hansmann M., Haradhvala N. J., Harismendy O., Harliwong I., Harmanci A. O., Harrington E., Hasegawa T., Hawkins S., Hayami S., Hayashi S., Hayes D. N., Hayes S. J., Hayward N. K., Hazell S., He Y., Heath A. P., Heath S. C., Hedley D., Hegde A. M., Heiman D. I., Heins Z., Heisler L. E., Hellstrom-Lindberg E., Helmy M., Heo S. G., Hepperla A. J., Heredia-Genestar J. M., Herrmann C., Hersey P., Hilmarsdottir H., Hirano S., Hiraoka N., Hoadley K. A., Hobolth A., Hodzic E., Hoell J. I., Hoffmann S., Hofmann O., Holbrook A., Holik A. Z., Hollingsworth M. A., Holmes O., Holt R. A., Hong C., Hong E. P., Hong J. H., Hooijer G. K., Hornshoj H., Hosoda F., Hou Y., Hovestadt V., Howat W., Hoyle A. P., Hruban R. H., Hu J., Hua X., Huang K. -L., Huang M., Huang M. N., Huber W., Hudson T. J., Hummel M., Hung J. A., Huntsman D., Hupp T. R., Huse J., Huska M. R., Hubschmann D., Iacobuzio-Donahue C. A., Imbusch C. D., Imielinski M., Imoto S., Isaacs W. B., Isaev K., Ishikawa S., Iskar M., Islam S. M. A., Ittmann M., Ivkovic S., Izarzugaza J. M. G., Jacquemier J., Jakrot V., Jamieson N. B., Jang G. H., Jang S. J., Jayaseelan J. C., Jayasinghe R., Jefferys S. R., Jegalian K., Jennings J. L., Jeon S. -H., Jerman L., Ji Y., Jiao W., Johansson P. A., Johns A. L., Johns J., Johnson R., Johnson T. A., Jolly C., Joly Y., Jonasson J. G., Jones C. D., Jones D. T. W., Jones N., Jones S. J. M., Jonkers J., Ju Y. S., Juhl H., Juul M., Juul R. I., Juul S., Kabbe R., Kahles A., Kahraman A., Kaiser V. B., Kakavand H., Kalimuthu S., von Kalle C., Kang K. J., Karaszi K., Karlan B., Karlic R., Karsch D., Kassahn K. S., Katai H., Kato M., Katoh H., Kawakami Y., Kay J. D., Kazakoff S. H., Kazanov M. D., Keays M., Kebebew E., Kefford R. F., Kellis M., Kench J. G., Kennedy C. J., Kerssemakers J. N. A., Khoo D., Khoo V., Khuntikeo N., Khurana E., Kilpinen H., Kim H. K., Kim H. -Y., Kim H., Kim J., Kim J. K., Kim Y., King T. A., Klapper W., Klimczak L. J., Knappskog S., Kneba M., Knoppers B. M., Koh Y., Jan Komorowski, Komura D., Komura M., Kong G., Kool M., Korbel J. O., Korchina V., Korshunov A., Koscher M., Koster R., Kote-Jarai Z., Koures A., Kovacevic M., Kremeyer B., Kretzmer H., Kreuz M., Krishnamurthy S., Kube D., Kumar K., Kumar P., Kundra R., Kubler K., Kuppers R., Lagergren J., Lai P. H., Laird P. W., Lakhani S. R., Lalonde E., Lamaze F. C., Lambert A., Lander E., Landgraf P., Landoni L., Langerod A., Lanzos A., Larsimont D., Larsson E., Lathrop M., Lau L. M. S., Lawerenz C., Lawlor R. T., Lawrence M. S., Lazar A. J., Le X., Lee D., Lee E. A., Lee H. J., Lee J. J. -K., Lee J. -Y., Lee J., Lee M. T. M., Lee-Six H., Lehmann K. -V., Lehrach H., Lenze D., Leonard C. R., Leongamornlert D. A., Letourneau L., Levine D. A., Lewis L., Ley T., Li C., Li C. H., Li H. I., Li J., Li L., Li X., Liang H., Liang S. -B., Lichter P., Lin P., Lin Z., Linehan W. M., Lingjaerde O. C., Liu D., Liu E. M., Liu F. -F., Liu F., Liu J., Liu X., Livingstone J., Livni N., Lochovsky L., Loeffler M., Long G. V., Lopez-Guillermo A., Lou S., Louis D. N., Lovat L. B., Lu Y., Lu Y. -J., Luchini C., Lungu I., Luo X., Luxton H. J., Lynch A. G., Lype L., Lopez C., Lopez-Otin C., Ma Y., MacGrogan G., MacRae S., Macintyre G., Madsen T., Maejima K., Mafficini A., Maglinte D. T., Maitra A., Majumder P. P., Malcovati L., Malikic S., Malleo G., Mann G. J., Mantovani-Loffler L., Marchal K., Marchegiani G., Mardis E. R., Margolin A. A., Marin M. G., Markowetz F., Markowski J., Marks J., Marques-Bonet T., Marra M. A., Marsden L., Martens J. W. M., Martin S., Martin-Subero J. I., Martincorena I., Martinez-Fundichely A., Massie C. E., Matthew T. J., Matthews L., Mayer E., Mayes S., Mayo M., Mbabaali F., McCune K., McDermott U., McGillivray P. D., McPherson J. D., McPherson J. R., McPherson T. A., Meier S. R., Meng A., Meng S., Merrett N. D., Merson S., Meyerson M., Mieczkowski P. A., Mihaiescu G. L., Mijalkovic S., Mijalkovic-Lazic A. M., Mikkelsen T., Milella M., Mileshkin L., Miller C. A., Miller D. K., Miller J. K., Minner S., Miotto M., Arnau G. M., Mirabello L., Mitchell C., Mitchell T. J., Miyano S., Miyoshi N., Mizuno S., Molnar-Gabor F., Moore M. J., Moore R. A., Morganella S., Morris Q. D., Morrison C., Mose L. E., Moser C. D., Muinos F., Mularoni L., Mungall A. J., Mungall K., Musgrove E. A., Mustonen V., Mutch D., Muyas F., Muzny D. M., Munoz A., Myers J., Myklebost O., Moller P., Nagae G., Nagrial A. M., Nahal-Bose H. K., Nakagama H., Nakagawa H., Nakamura H., Nakamura T., Nakano K., Nandi T., Nangalia J., Nastic M., Navarro A., Navarro F. C. P., Neal D. E., Nettekoven G., Newell F., Newhouse S. J., Newton Y., Ng A. W. T., Ng A., Nicholson J., Nicol D., Nie Y., Nielsen G. P., Nik-Zainal S., Noble M. S., Nones K., Northcott P. A., Notta F., O'Connor B. D., O'Donnell P., O'Donovan M., O'Meara S., O'Neill B. P., O'Neill J. R., Ocana D., Ochoa A., Oesper L., Ogden C., Ohdan H., Ohi K., Ohno-Machado L., Oien K. A., Ojesina A. I., Ojima H., Okusaka T., Omberg L., Ong C. K., Ott G., Ouellette B. F. F., P'ng C., Paczkowska M., Paiella S., Pairojkul C., Pajic M., Pan-Hammarstrom Q., Papaemmanuil E., Papatheodorou I., Park J. W., Park J. -W., Park K., Park P. J., Parker J. S., Parsons S. L., Pass H., Pasternack D., Pastore A., Patch A. -M., Pauporte I., Pea A., Pearson J. V., Pedamallu C. S., Pederzoli P., Peifer M., Pennell N. A., Perou C. M., Petersen G. M., Petrelli N., Petryszak R., Pfister S. M., Phillips M., Pich O., Pickett H. A., Pihl T. D., Pillay N., Pinder S., Pinese M., Pinho A. V., Pitkanen E., Pivot X., Pineiro-Yanez E., Planko L., Plass C., Polak P., Pons T., Popescu I., Potapova O., Prasad A., Preston S. R., Prinz M., Pritchard A. L., Prokopec S. D., Provenzano E., Puente X. S., Puig S., Pulido-Tamayo S., Pupo G. M., Purdie C. A., Quinn M. C., Rabionet R., Rader J. S., Radlwimmer B., Radovic P., Raeder B., Ramakrishna M., Ramakrishnan K., Ramalingam S., Raphael B. J., Rathmell W. K., Rausch T., Reifenberger G., Reimand J., Reis-Filho J., Reuter V., Reyes-Salazar I., Reyna M. A., Riazalhosseini Y., Richardson A. L., Richter J., Ringel M., Ringner M., Rino Y., Rippe K., Roach J., Roberts L. R., Roberts N. D., Roberts S. A., Robertson A. G., Robertson A. J., Rodriguez J. B., Rodriguez-Martin B., Rodriguez-Gonzalez F. G., Roehrl M. H. A., Rohde M., Rokutan H., Romieu G., Rooman I., Roques T., Rosebrock D., Rosenberg M., Rosenstiel P. C., Rosenwald A., Rowe E. W., Rozen S. G., Rubanova Y., Rubin M. A., Rubio-Perez C., Rudneva V. A., Rusev B. C., Ruzzenente A., Ratsch G., Sabarinathan R., Sabelnykova V. Y., Sadeghi S., Saini N., Saito-Adachi M., Salcedo A., Salgado R., Salichos L., Sallari R., Saller C., Salvia R., Sam M., Samra J. S., Sanchez-Vega F., Sander C., Sanders G., Sarin R., Sasaki-Oku A., Sauer T., Sauter G., Saw R. P. M., Scardoni M., Scarlett C. J., Scarpa A., Scelo G., Schadendorf D., Schein J. E., Schilhabel M. B., Schlomm T., Schmidt H. K., Schramm S. -J., Schreiber S., Schultz N., Schumacher S. E., Schwarz R. F., Scolyer R. A., Scott D., Scully R., Seethala R., Segre A. V., Selander I., Semple C. A., Senbabaoglu Y., Sengupta S., Sereni E., Serra S., Sgroi D. C., Shackleton M., Shah N. C., Shahabi S., Shang C. A., Shang P., Shapira O., Shelton T., Shen C., Shen H., Shepherd R., Shi R., Shi Y., Shiah Y. -J., Shibata T., Shih J., Shimizu E., Shimizu K., Shin S. J., Shiraishi Y., Shmaya T., Shmulevich I., Shorser S. I., Short C., Shrestha R., Shringarpure S. S., Shriver C., Shuai S., Sidiropoulos N., Siebert R., Sieuwerts A. M., Sieverling L., Signoretti S., Sikora K. O., Simbolo M., Simon R., Simons J. V., Singer S., Sinnott-Armstrong N., Sipahimalani P., Skelly T. J., Smid M., Smith J., Smith-McCune K., Socci N. D., Sofia H. J., Soloway M. G., Song L., Sood A. K., Sothi S., Sotiriou C., Soulette C. M., Span P. N., Spellman P. T., Sperandio N., Spillane A. J., Spiro O., Spring J., Staaf J., Stadler P. F., Staib P., Stark S. G., Stefansson O. A., Stegle O., Stein L. D., Stenhouse A., Stilgenbauer S., Stratton M. R., Stretch J. R., Stunnenberg H. G., Su H., Su X., Sun R. X., Sungalee S., Susak H., Suzuki A., Sweep F., Szczepanowski M., Sultmann H., Yugawa T., Tam A., Tamborero D., Tan B. K. T., Tan D., Tan P., Tanaka H., Taniguchi H., Tanskanen T. J., Tarabichi M., Tarnuzzer R., Tarpey P., Taschuk M. L., Tatsuno K., Tavare S., Taylor D. F., Taylor-Weiner A., Teh B. T., Tembe V., Temes J., Thai K., Thayer S. P., Thiessen N., Thomas G., Thomas S., Thompson A., Thompson A. M., Thompson J. F., Thompson R. H., Thorne H., Thorne L. B., Thorogood A., Tijanic N., Timms L. E., Tirabosco R., Tojo M., Tommasi S., Toon C. W., Toprak U. H., Tortora G., Tost J., Totoki Y., Townend D., Traficante N., Treilleux I., Trotta J. -R., Trumper L. H. P., Tsao M., Tsunoda T., Tubio J. M. C., Tucker O., Turkington R., Turner D. J., Tutt A., Ueno M., Ueno N. T., Umbricht C., Umer H. M., Underwood T. J., Urban L., Urushidate T., Ushiku T., Uuskula-Reimand L., Valencia A., Van Den Berg D. J., Van Laere S., Van Loo P., Van Meir E. G., Van den Eynden G. G., Van der Kwast T., Vasudev N., Vazquez M., Vedururu R., Veluvolu U., Vembu S., Verbeke L. P. C., Vermeulen P., Verrill C., Viari A., Vicente D., Vicentini C., Raghavan K. V., Viksna J., Vilain R. E., Villasante I., Vincent-Salomon A., Visakorpi T., Voet D., Vyas P., Vazquez-Garcia I., Waddell N. M., Waddell N., Wadelius C., Wadi L., Wagener R., Wang L., Wang Q., Wang Y., Wang Z., Waring P. M., Warnatz H. -J., Warrell J., Warren A. Y., Wedge D. C., Weichenhan D., Weinberger P., Weisenberger D. J., Welch I., Whalley J. P., Whitaker H. C., Wigle D., Wilkerson M. D., Williams A., Wilmott J. S., Wilson G. W., Wilson J. M., Wilson R. K., Winterhoff B., Wintersinger J. A., Wiznerowicz M., Wolf S., Wong B. H., Wong T., Wong W., Woo Y., Wood S., Wouters B. G., Wright A. J., Wright D. W., Wright M. H., Wu C. -L., Wu D. -Y., Wu G., Wu J., Wu K., Wu Y., Xia T., Xiang Q., Xiao X., Xing R., Xiong H., Xu Q., Xu Y., Yachida S., Yamaguchi R., Yamamoto M., Yamamoto S., Yamaue H., Yang F., Yang H., Yang J. Y., Yang L., Yang S., Yang T. -P., Yang Y., Yao X., Yaspo M. -L., Yates L., Yau C., Ye C., Yoon C. J., Yoon S. -S., Yousif F., Yu J., Yu K., Yu W., Yu Y., Yuan K., Yuan Y., Yuen D., Zaikova O., Zamora J., Zapatka M., Zenklusen J. C., Zenz T., Zeps N., Zhang C. -Z., Zhang F., Zhang H., Zhang X., Zhang Y., Zhang Z., Zhao Z., Zheng L., Zheng X., Zhou W., Zhou Y., Bin Zhu, Zhu H., Zhu J., Zhu S., Zou L., Zou X., deFazio A., van As N., van Deurzen C. H. M., van de Vijver M. J., van't Veer L., von Mering C.

المساهمون: Bailey, M, Meyerson, W, Dursi, L, Wang, L, Dong, G, Liang, W, Weerasinghe, A, Li, S, Li, Y, Kelso, S, Akbani, R, Anur, P, Buchanan, A, Chiotti, K, Covington, K, Creason, A, Ding, L, Ellrott, K, Fan, Y, Foltz, S, Getz, G, Hale, W, Haussler, D, Hess, J, Hutter, C, Kandoth, C, Kasaian, K, Kasapi, M, Larson, D, Leshchiner, I, Letaw, J, Ma, S, Mclellan, M, Men, Y, Mills, G, Niu, B, Peto, M, Radenbaugh, A, Reynolds, S, Saksena, G, Sofia, H, Stewart, C, Struck, A, Stuart, J, Wang, W, Weinstein, J, Wheeler, D, Wong, C, Xi, L, Ye, K, Bieg, M, Boutros, P, Buchhalter, I, Butler, A, Chen, K, Chong, Z, Drechsel, O, Jonathan Dursi, L, Eils, R, Espiritu, S, Fulton, R, Gao, S, Gelpi, J, Gerstein, M, Gonzalez, S, Gut, I, Hach, F, Heinold, M, Hinton, J, Hu, T, Huang, V, Huang, Y, Hutter, B, Jones, D, Jung, J, Jager, N, Kim, H, Kleinheinz, K, Kumar, S, Kumar, Y, Lalansingh, C, Letunic, I, Livitz, D, Ma, E, Maruvka, Y, Mashl, R, Menzies, A, Milovanovic, A, Nielsen, M, Ossowski, S, Paramasivam, N, Pedersen, J, Perry, M, Puiggros, M, Raine, K, Rheinbay, E, Royo, R, Sahinalp, S, Sarrafi, I, Schlesner, M, Simpson, J, Stebbings, L, Stobbe, M, Teague, J, Tiao, G, Torrents, D, Wala, J, Wang, J, Waszak, S, Weischenfeldt, J, Wendl, M, Werner, J, Wu, Z, Xue, H, Yakneen, S, Yamaguchi, T, Yellapantula, V, Yung, C, Zhang, J, Aaltonen, L, Abascal, F, Abeshouse, A, Aburatani, H, Adams, D, Agrawal, N, Ahn, K, Ahn, S, Aikata, H, Akdemir, K, Al-Ahmadie, H, Al-Sedairy, S, Al-Shahrour, F, Alawi, M, Albert, M, Aldape, K, Alexandrov, L, Ally, A, Alsop, K, Alvarez, E, Amary, F, Amin, S, Aminou, B, Ammerpohl, O, Anderson, M, Ang, Y, Antonello, D, Aparicio, S, Appelbaum, E, Arai, Y, Aretz, A, Arihiro, K, Ariizumi, S, Armenia, J, Arnould, L, Asa, S, Assenov, Y, Atwal, G, Aukema, S, Auman, J, Aure, M, Awadalla, P, Aymerich, M, Bader, G, Baez-Ortega, A, Bailey, P, Balasundaram, M, Balu, S, Bandopadhayay, P, Banks, R, Barbi, S, Barbour, A, Barenboim, J, Barnholtz-Sloan, J, Barr, H, Barrera, E, Bartlett, J, Bartolome, J, Bassi, C, Bathe, O, Baumhoer, D, Bavi, P, Baylin, S, Bazant, W, Beardsmore, D, Beck, T, Behjati, S, Behren, A, Bell, C, Beltran, S, Benz, C, Berchuck, A, Bergmann, A, Bergstrom, E, Berman, B, Berney, D, Bernhart, S, Beroukhim, R, Berrios, M, Bersani, S, Bertl, J, Betancourt, M, Bhandari, V, Bhosle, S, Biankin, A, Bigner, D, Binder, H, Birney, E, Birrer, M, Biswas, N, Bjerkehagen, B, Bodenheimer, T, Boice, L, Bonizzato, G, De Bono, J, Boot, A, Bootwalla, M, Borg, A, Borkhardt, A, Boroevich, K, Borozan, I, Borst, C, Bosenberg, M, Bosio, M, Boultwood, J, Bourque, G, Bova, G, Bowen, D, Bowlby, R, Bowtell, D, Boyault, S, Boyce, R, Boyd, J, Brazma, A, Brennan, P, Brewer, D, Brinkman, A, Bristow, R, Broaddus, R, Brock, J, Brock, M, Broeks, A, Brooks, A, Brooks, D, Brors, B, Brunak, S, Bruxner, T, Bruzos, A, Buchholz, C, Bullman, S, Burke, H, Burkhardt, B, Burns, K, Busanovich, J, Bustamante, C, Butte, A, Byrne, N, Borresen-Dale, A, Caesar-Johnson, S, Cafferkey, A, Cahill, D, 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Zenz, T, Zeps, N, Zhang, C, Zhang, F, Zhang, H, Zhang, X, Zhang, Y, Zhang, Z, Zhao, Z, Zheng, L, Zheng, X, Zhou, W, Zhou, Y, Bin, Z, Zhu, H, Zhu, J, Zhu, S, Zou, L, Zou, X, Defazio, A, van As, N, van Deurzen, C, van de Vijver, M, van't Veer, L, von Mering, C, University of Zurich, Gerstein, Mark B, Ding, Li, Faculty of Economic and Social Sciences and Solvay Business School

المصدر: Nature Communications, Vol 11, Iss 1, Pp 1-1 (2020)
Nature communications, vol 11, iss 1

مصطلحات موضوعية: Science, MEDLINE, Medizin, General Physics and Astronomy, Pain, 610 Medicine & health, 1600 General Chemistry, Computational biology, Biology, 10 kHz spinal cord stimulation, Genome, responders, MC3 Working Group, General Biochemistry, Genetics and Molecular Biology, whole exome sequencing, Machine Learning, 1300 General Biochemistry, Genetics and Molecular Biology, PCAWG novel somatic mutation calling methods working group, medicine, cancer, Genome mutation, Exome, Exome sequencing, Whole genome sequencing, whole genome sequencing, Multidisciplinary, Published Erratum, Cancer, PCAWG Consortium, General Chemistry, medicine.disease, 3100 General Physics and Astronomy, oncology, 10032 Clinic for Oncology and Hematology, Prediction

الوصف: Weitere Nicht-UDE-Autoren sind nicht genannt. Originalpublikation: 10.1038/s41467-020-18151-y. CA extern The original version of this Article omitted from the author list the 9th author Yize Li, who is from the ‘The McDonnell Genome Institute at Washington University, St. Louis, MO 63108, USA and Department of Medicine, Division of Oncology, Washington University School of Medicine, St. Louis, MO 63108, USA’. This has been corrected in both the PDF and HTML versions of the Article. © 2020, The Author(s).

وصف الملف: s41467-020-20128-w.pdf - application/pdf; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::58a5f62c8099f02a9addd94129605a52Test
https://www.ncbi.nlm.nih.gov/pubmed/33257764Test

المؤلفون: Paczkowska M., Barenboim J., Sintupisut N., Fox N. S., Zhu H., Abd-Rabbo D., Mee M. W., Boutros P. C., Abascal F., Amin S. B., Bader G. D., Beroukhim R., Bertl J., Boroevich K. A., Brunak S., Campbell P. J., Carlevaro-Fita J., Chakravarty D., Chan C. W. Y., Chen K., Choi J. K., Deu-Pons J., Dhingra P., Diamanti K., Feuerbach L., Fink J. L., Fonseca N. A., Frigola J., Gambacorti Passerini C., Garsed D. W., Gerstein M., Getz G., Gonzalez-Perez A., Guo Q., Gut I. G., Haan D., Hamilton M. P., Haradhvala N. J., Harmanci A. O., Helmy M., Herrmann C., Hess J. M., Hobolth A., Hodzic E., Hong C., Hornshoj H., Isaev K., Izarzugaza J. M. G., Johnson R., Johnson T. A., Juul M., Juul R. I., Kahles A., Kahraman A., Kellis M., Khurana E., Kim J., Kim J. K., Kim Y., Komorowski J., Korbel J. O., Kumar S., Lanzos A., Lawrence M. S., Lee D., Lehmann K. -V., Li S., Li X., Lin Z., Liu E. M., Lochovsky L., Lou S., Madsen T., Marchal K., Martincorena I., Martinez-Fundichely A., Maruvka Y. E., McGillivray P. D., Meyerson W., Muinos F., Mularoni L., Nakagawa H., Nielsen M. M., Park K., Pedersen J. S., Pich O., Pons T., Pulido-Tamayo S., Raphael B. J., Reyes-Salazar I., Reyna M. A., Rheinbay E., Rubin M. A., Rubio-Perez C., Sabarinathan R., Sahinalp S. C., Saksena G., Salichos L., Sander C., Schumacher S. E., Shackleton M., Shapira O., Shen C., Shrestha R., Shuai S., Sidiropoulos N., Sieverling L., Sinnott-Armstrong N., Stein L. D., Stuart J. M., Tamborero D., Tiao G., Tsunoda T., Umer H. M., Uuskula-Reimand L., Valencia A., Vazquez M., Verbeke L. P. C., Wadelius C., Wadi L., Wang J., Warrell J., Waszak S. M., Weischenfeldt J., Wheeler D. A., Wu G., Yu J., Zhang J., Zhang X., Zhang Y., Zhao Z., Zou L., von Mering C., Reimand J.

المساهمون: Boutros, Paul C [0000-0003-0553-7520], Reimand, Jüri [0000-0002-2299-2309], Apollo - University of Cambridge Repository, Paczkowska, M, Barenboim, J, Sintupisut, N, Fox, N, Zhu, H, Abd-Rabbo, D, Mee, M, Boutros, P, Abascal, F, Amin, S, Bader, G, Beroukhim, R, Bertl, J, Boroevich, K, Brunak, S, Campbell, P, Carlevaro-Fita, J, Chakravarty, D, Chan, C, Chen, K, Choi, J, Deu-Pons, J, Dhingra, P, Diamanti, K, Feuerbach, L, Fink, J, Fonseca, N, Frigola, J, Gambacorti Passerini, C, Garsed, D, Gerstein, M, Getz, G, Gonzalez-Perez, A, Guo, Q, Gut, I, Haan, D, Hamilton, M, Haradhvala, N, Harmanci, A, Helmy, M, Herrmann, C, Hess, J, Hobolth, A, Hodzic, E, Hong, C, Hornshoj, H, Isaev, K, Izarzugaza, J, Johnson, R, Johnson, T, Juul, M, Juul, R, Kahles, A, Kahraman, A, Kellis, M, Khurana, E, Kim, J, Kim, Y, Komorowski, J, Korbel, J, Kumar, S, Lanzos, A, Lawrence, M, Lee, D, Lehmann, K, Li, S, Li, X, Lin, Z, Liu, E, Lochovsky, L, Lou, S, Madsen, T, Marchal, K, Martincorena, I, Martinez-Fundichely, A, Maruvka, Y, Mcgillivray, P, Meyerson, W, Muinos, F, Mularoni, L, Nakagawa, H, Nielsen, M, Park, K, Pedersen, J, Pich, O, Pons, T, Pulido-Tamayo, S, Raphael, B, Reyes-Salazar, I, Reyna, M, Rheinbay, E, Rubin, M, Rubio-Perez, C, Sabarinathan, R, Sahinalp, S, Saksena, G, Salichos, L, Sander, C, Schumacher, S, Shackleton, M, Shapira, O, Shen, C, Shrestha, R, Shuai, S, Sidiropoulos, N, Sieverling, L, Sinnott-Armstrong, N, Stein, L, Stuart, J, Tamborero, D, Tiao, G, Tsunoda, T, Umer, H, Uuskula-Reimand, L, Valencia, A, Vazquez, M, Verbeke, L, Wadelius, C, Wadi, L, Wang, J, Warrell, J, Waszak, S, Weischenfeldt, J, Wheeler, D, Wu, G, Yu, J, Zhang, J, Zhang, X, Zhang, Y, Zhao, Z, Zou, L, von Mering, C, Reimand, J

المصدر: Nature Communications, 11, 1
Paczkowska, M, Barenboim, J, Sintupisut, N, Fox, N S, Zhu, H, Abd-Rabbo, D, Mee, M W, Boutros, P C, Abascal, F, Amin, S B, Bader, G D, Beroukhim, R, Bertl, J, Boroevich, K A, Brunak, S, Campbell, P J, Carlevaro-Fita, J, Chakravarty, D, Chan, C W Y, Chen, K, Choi, J K, Deu-Pons, J, Dhingra, P, Diamanti, K, Feuerbach, L, Fink, J L, Fonseca, N A, Frigola, J, Gambacorti-Passerini, C, Garsed, D W, Gerstein, M, Getz, G, Gonzalez-Perez, A, Guo, Q, Gut, I G, Haan, D, Hamilton, M P, Haradhvala, N J, Harmanci, A O, Helmy, M, Herrmann, C, Hess, J M, Hobolth, A, Hodzic, E, Hong, C, Hornshøj, H, Nielsen, M M, Pedersen, J S, Sidiropoulos, N & Weischenfeldt, J 2020, ' Integrative pathway enrichment analysis of multivariate omics data ', Nature Communications, vol. 11, no. 1, 735 . https://doi.org/10.1038/s41467-019-13983-9Test
Nature Communications, 11
Paczkowska, M, Barenboim, J, Sintupisut, N, Fox, N S, Zhu, H, Abd-Rabbo, D, Mee, M W, Boutros, P C, PCAWG Drivers and Functional Interpretation Working Group, Reimand, J & PCAWG Consortium 2020, ' Integrative pathway enrichment analysis of multivariate omics data ', Nature Communications, vol. 11, no. 1, 735 . https://doi.org/10.1038/s41467-019-13983-9Test
Nature communications, vol 11, iss 1
Nature Communications, Vol 11, Iss 1, Pp 1-16 (2020)
NATURE COMMUNICATIONS
Nature Communications, 11 (1)
Nature Communications
Paczkowska, Marta; Barenboim, Jonathan; Sintupisut, Nardnisa; Fox, Natalie S; Zhu, Helen; Abd-Rabbo, Diala; Mee, Miles W; Boutros, Paul C; Reimand, Jüri (2020). Integrative pathway enrichment analysis of multivariate omics data. Nature communications, 11(1), p. 735. 10.1038/s41467-019-13983-9 <http://dx.doi.org/10.1038/s41467-019-13983-9Test>

مصطلحات موضوعية: 0301 basic medicine, HOMEOSTASIS, Databases, Factual, Messenger, Medizin, Gene Dosage, General Physics and Astronomy, RNA-Seq, Apoptosis, Disease, Genome, Transcriptome, 0302 clinical medicine, PCAWG Drivers and Functional Interpretation Working Group, Neoplasms, BINDING, Cancer genomics, Medicine and Health Sciences, 2.1 Biological and endogenous factors, Gene Regulatory Networks, NETWORK, Aetiology, Càncer, lcsh:Science, Multidisciplinary, Women's cancers Radboud Institute for Molecular Life Sciences [Radboudumc 17], Genomics, ATLAS, Prognosis, CANCER, 3. Good health, Women's cancers Radboud Institute for Health Sciences [Radboudumc 17], 030220 oncology & carcinogenesis, Data integration, Female, YAP, Sequence Analysis, Metabolic Networks and Pathways, Biotechnology, Signal Transduction, genome sequencing, breast cancers, RNA-seq, whole-genome sequencing (WGS) data, multi-omics pathway, Chromatin Immunoprecipitation, Science, 610 Medicine & health, Breast Neoplasms, Computational biology, Biology, Adenocarcinoma, Protein Serine-Threonine Kinases, Article, General Biochemistry, Genetics and Molecular Biology, DNA sequencing, Databases, 03 medical and health sciences, Breast Cancer, Genetics, medicine, Humans, Hippo Signaling Pathway, RNA, Messenger, Gene, Factual, SIGNATURES, Biologia molecular, HIPPO PATHWAY, MUTATIONS, Sequence Analysis, RNA, Gene Expression Profiling, Human Genome, Cancer, Biology and Life Sciences, PCAWG Consortium, Computational Biology, General Chemistry, Stem Cell Research, medicine.disease, Omics, Genòmica, Good Health and Well Being, 030104 developmental biology, Mutation, RNA, Gene ontology, lcsh:Q, Genètica

الوصف: Multi-omics datasets represent distinct aspects of the central dogma of molecular biology. Such high-dimensional molecular profiles pose challenges to data interpretation and hypothesis generation. ActivePathways is an integrative method that discovers significantly enriched pathways across multiple datasets using statistical data fusion, rationalizes contributing evidence and highlights associated genes. As part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, which aggregated whole genome sequencing data from 2658 cancers across 38 tumor types, we integrated genes with coding and non-coding mutations and revealed frequently mutated pathways and additional cancer genes with infrequent mutations. We also analyzed prognostic molecular pathways by integrating genomic and transcriptomic features of 1780 breast cancers and highlighted associations with immune response and anti-apoptotic signaling. Integration of ChIP-seq and RNA-seq data for master regulators of the Hippo pathway across normal human tissues identified processes of tissue regeneration and stem cell regulation. ActivePathways is a versatile method that improves systems-level understanding of cellular organization in health and disease through integration of multiple molecular datasets and pathway annotations.
Multi-omics datasets pose major challenges to data interpretation and hypothesis generation owing to their high-dimensional molecular profiles. Here, the authors develop ActivePathways method, which uses data fusion techniques for integrative pathway analysis of multi-omics data and candidate gene discovery.

وصف الملف: application/pdf; text/xml; ELETTRONICO; application/application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3823c80f12b86d6e3f7c27d01ac91c36Test

المؤلفون: Li C. H., Prokopec S. D., Sun R. X., Yousif F., Schmitz N., Al-Shahrour F., Atwal G., Bailey P. J., Biankin A. V., Boutros P. C., Campbell P. J., Chang D. K., Cooke S. L., Deshpande V., Faltas B. M., Faquin W. C., Garraway L., Getz G., Grimmond S. M., Haider S., Hoadley K. A., Jiao W., Kaiser V. B., Karlic R., Kato M., Kubler K., Lazar A. J., Louis D. N., Margolin A., Martin S., Nahal-Bose H. K., Nielsen G. P., Nik-Zainal S., Omberg L., P'ng C., Perry M. D., Polak P., Rheinbay E., Rubin M. A., Semple C. A., Sgroi D. C., Shibata T., Siebert R., Smith J., Stein L. D., Stobbe M. D., Thai K., Wright D. W., Wu C. -L., Yuan K., Zhang J., Aaltonen L. A., Abascal F., Abeshouse A., Aburatani H., Adams D. J., Agrawal N., Ahn K. S., Ahn S. -M., Aikata H., Akbani R., Akdemir K. C., Al-Ahmadie H., Al-Sedairy S. T., Alawi M., Albert M., Aldape K., Alexandrov L. B., Ally A., Alsop K., Alvarez E. G., Amary F., Amin S. B., Aminou B., Ammerpohl O., Anderson M. 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N., Spellman P. T., Sperandio N., Spillane A. J., Spiro O., Spring J., Staaf J., Stadler P. F., Staib P., Stark S. G., Stebbings L., Stefansson O. A., Stegle O., Stenhouse A., Stewart C., Stilgenbauer S., Stratton M. R., Stretch J. R., Struck A. J., Stuart J. M., Stunnenberg H. G., Su H., Su X., Sungalee S., Susak H., Suzuki A., Sweep F., Szczepanowski M., Sultmann H., Yugawa T., Tam A., Tamborero D., Tan B. K. T., Tan D., Tan P., Tanaka H., Taniguchi H., Tanskanen T. J., Tarabichi M., Tarnuzzer R., Tarpey P., Taschuk M. L., Tatsuno K., Tavare S., Taylor D. F., Taylor-Weiner A., Teague J. W., Teh B. T., Tembe V., Temes J., Thayer S. P., Thiessen N., Thomas G., Thomas S., Thompson A., Thompson A. M., Thompson J. F., Thompson R. H., Thorne H., Thorne L. B., Thorogood A., Tiao G., Tijanic N., Timms L. E., Tirabosco R., Tojo M., Tommasi S., Toon C. W., Toprak U. H., Torrents D., Tortora G., Tost J., Totoki Y., Townend D., Traficante N., Treilleux I., Trotta J. -R., Trumper L. H. P., Tsao M., Tsunoda T., Tubio J. M. C., Tucker O., Turkington R., Turner D. J., Tutt A., Ueno M., Ueno N. T., Umbricht C., Umer H. M., Underwood T. J., Urban L., Urushidate T., Ushiku T., Uuskula-Reimand L., Valencia A., Van Den Berg D. J., Van Laere S., Van Loo P., Van Meir E. G., Van den Eynden G. G., Van der Kwast T., Vasudev N., Vazquez M., Vedururu R., Veluvolu U., Vembu S., Verbeke L. P. C., Vermeulen P., Verrill C., Viari A., Vicente D., Vicentini C., Raghavan K. V., Viksna J., Vilain R. E., Villasante I., Vincent-Salomon A., Visakorpi T., Voet D., Vyas P., Vazquez-Garcia I., Waddell N. M., Waddell N., Wadelius C., Wadi L., Wagener R., Wala J. A., Wang J., Wang L., Wang Q., Wang W., Wang Y., Wang Z., Waring P. M., Warnatz H. -J., Warrell J., Warren A. Y., Waszak S. M., Wedge D. C., Weichenhan D., Weinberger P., Weinstein J. N., Weischenfeldt J., Weisenberger D. J., Welch I., Wendl M. C., Werner J., Whalley J. P., Wheeler D. A., Whitaker H. C., Wigle D., Wilkerson M. D., Williams A., Wilmott J. S., Wilson G. W., Wilson J. M., Wilson R. K., Winterhoff B., Wintersinger J. A., Wiznerowicz M., Wolf S., Wong B. H., Wong T., Wong W., Woo Y., Wood S., Wouters B. G., Wright A. J., Wright M. H., Wu D. -Y., Wu G., Wu J., Wu K., Wu Y., Wu Z., Xi L., Xia T., Xiang Q., Xiao X., Xing R., Xiong H., Xu Q., Xu Y., Xue H., Yachida S., Yakneen S., Yamaguchi R., Yamaguchi T. N., Yamamoto M., Yamamoto S., Yamaue H., Yang F., Yang H., Yang J. Y., Yang L., Yang S., Yang T. -P., Yang Y., Yao X., Yaspo M. -L., Yates L., Yau C., Ye C., Ye K., Yellapantula V. D., Yoon C. J., Yoon S. -S., Yu J., Yu K., Yu W., Yu Y., Yuan Y., Yuen D., Yung C. K., Zaikova O., Zamora J., Zapatka M., Zenklusen J. C., Zenz T., Zeps N., Zhang C. -Z., Zhang F., Zhang H., Zhang X., Zhang Y., Zhang Z., Zhao Z., Zheng L., Zheng X., Zhou W., Zhou Y., Zhu B., Zhu H., Zhu J., Zhu S., Zou L., Zou X., deFazio A., van As N., van Deurzen C. H. M., van de Vijver M. J., Veer L., von Mering C.

المساهمون: Lauri Antti Aaltonen / Principal Investigator, Genome-Scale Biology (GSB) Research Program, Department of Medical and Clinical Genetics, Organismal and Evolutionary Biology Research Programme, Helsinki Institute for Information Technology, Institute of Biotechnology, Bioinformatics, Department of Computer Science, Faculty of Medicine, HUS Helsinki and Uusimaa Hospital District, University of St Andrews. Sir James Mackenzie Institute for Early Diagnosis, University of St Andrews. Cellular Medicine Division, University of St Andrews. Statistics, University of St Andrews. School of Medicine, Heilbrigðisvísindasvið (HÍ), School of Health Sciences (UI), Háskóli Íslands, University of Iceland, Li, C, Prokopec, S, Sun, R, Yousif, F, Schmitz, N, Al-Shahrour, F, Atwal, G, Bailey, P, Biankin, A, Boutros, P, Campbell, P, Chang, D, Cooke, S, Deshpande, V, Faltas, B, Faquin, W, Garraway, L, Getz, G, Grimmond, S, Haider, S, Hoadley, K, Jiao, W, Kaiser, V, Karlic, R, Kato, M, Kubler, K, Lazar, A, Louis, D, Margolin, A, Martin, S, Nahal-Bose, H, Nielsen, G, Nik-Zainal, S, Omberg, L, P'Ng, C, Perry, M, Polak, P, Rheinbay, E, Rubin, M, Semple, C, Sgroi, D, Shibata, T, Siebert, R, Smith, J, Stein, L, Stobbe, M, Thai, K, Wright, D, Wu, C, Yuan, K, Zhang, J, Aaltonen, L, Abascal, F, Abeshouse, A, Aburatani, H, Adams, D, Agrawal, N, Ahn, K, Ahn, S, Aikata, H, Akbani, R, Akdemir, K, Al-Ahmadie, H, Al-Sedairy, S, Alawi, M, Albert, M, Aldape, K, Alexandrov, L, Ally, A, Alsop, K, Alvarez, E, Amary, F, Amin, S, Aminou, B, Ammerpohl, O, Anderson, M, Ang, Y, Antonello, D, Anur, P, Aparicio, S, Appelbaum, E, Arai, Y, Aretz, A, Arihiro, K, Ariizumi, S, Armenia, J, Arnould, L, Asa, S, Assenov, Y, Aukema, S, Auman, J, Aure, M, Awadalla, P, Aymerich, M, Bader, G, Baez-Ortega, A, Bailey, M, Balasundaram, M, Balu, S, Bandopadhayay, P, Banks, R, Barbi, S, Barbour, A, Barenboim, J, Barnholtz-Sloan, J, Barr, H, Barrera, E, Bartlett, J, Bartolome, J, Bassi, C, Bathe, O, Baumhoer, D, Bavi, P, Baylin, S, Bazant, W, Beardsmore, D, Beck, T, Behjati, S, Behren, A, Niu, B, Bell, C, Beltran, S, Benz, C, Berchuck, A, Bergmann, A, Bergstrom, E, Berman, B, Berney, D, Bernhart, S, Beroukhim, R, Berrios, M, Bersani, S, Bertl, J, Betancourt, M, Bhandari, V, Bhosle, S, Bieg, M, Bigner, D, Binder, H, Birney, E, Birrer, M, Biswas, N, Bjerkehagen, B, Bodenheimer, T, Boice, L, Bonizzato, G, De Bono, J, Boot, A, Bootwalla, M, Borg, A, Borkhardt, A, Boroevich, K, Borozan, I, Borst, C, Bosenberg, M, Bosio, M, Boultwood, J, Bourque, G, Bova, G, Bowen, D, Bowlby, R, Bowtell, D, Boyault, S, Boyce, R, Boyd, J, Brazma, A, Brennan, P, Brewer, D, Brinkman, A, Bristow, R, Broaddus, R, Brock, J, Brock, M, Broeks, A, Brooks, A, Brooks, D, Brors, B, Brunak, S, Bruxner, T, Bruzos, A, Buchanan, A, Buchhalter, I, Buchholz, C, Bullman, S, Burke, H, Burkhardt, B, Burns, K, Busanovich, J, Bustamante, C, Butler, A, Butte, A, Byrne, N, Borresen-Dale, A, Caesar-Johnson, S, Cafferkey, A, Cahill, D, Calabrese, C, Caldas, C, Calvo, F, Camacho, N, Campo, E, Cantu, C, Cao, S, Carey, T, Carlevaro-Fita, J, Carlsen, R, Cataldo, I, Cazzola, M, Cebon, J, Cerfolio, R, Chadwick, D, Chakravarty, D, Chalmers, D, Chan, C, Chan, K, Chan-Seng-Yue, M, Chandan, V, Chanock, S, Chantrill, L, Chateigner, A, Chatterjee, N, Chayama, K, Chen, H, Chen, J, Chen, K, Chen, Y, Chen, Z, Cherniack, A, Chien, J, Chiew, Y, Chin, S, Cho, J, Cho, S, Choi, J, Choi, W, Chomienne, C, Chong, Z, Choo, S, Chou, A, Christ, A, Christie, E, Chuah, E, Cibulskis, C, Cibulskis, K, Cingarlini, S, Clapham, P, Claviez, A, Cleary, S, 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Green, E, Greger, L, Grehan, N, Grimaldi, S, Grossman, R, Grundhoff, A, Gundem, G, Guo, Q, Gupta, M, Gupta, S, Gut, I, Gut, M, Goke, J, Ha, G, Haake, A, Haan, D, Haas, S, Haase, K, Haber, J, Habermann, N, Hach, F, Hama, N, Hamdy, F, Hamilton, A, Hamilton, M, Han, L, Hanna, G, Hansmann, M, Haradhvala, N, Harismendy, O, Harliwong, I, Harmanci, A, Harrington, E, Hasegawa, T, Haussler, D, Hawkins, S, Hayami, S, Hayashi, S, Hayes, D, Hayes, S, Hayward, N, Hazell, S, He, Y, Heath, A, Heath, S, Hedley, D, Hegde, A, Heiman, D, Heinold, M, Heins, Z, Heisler, L, Hellstrom-Lindberg, E, Helmy, M, Heo, S, Hepperla, A, Heredia-Genestar, J, Herrmann, C, Hersey, P, Hess, J, Hilmarsdottir, H, Hinton, J, Hirano, S, Hiraoka, N, Hobolth, A, Hodzic, E, Hoell, J, Hoffmann, S, Hofmann, O, Holbrook, A, Holik, A, Hollingsworth, M, Holmes, O, Holt, R, Hong, C, Hong, E, Hong, J, Hooijer, G, Hornshoj, H, Hosoda, F, Hou, Y, Hovestadt, V, Howat, W, Hoyle, A, Hruban, R, Hu, J, Hu, T, Hua, X, Huang, K, Huang, M, Huang, V, Huang, Y, Huber, W, Hudson, T, Hummel, M, Hung, J, Huntsman, D, Hupp, T, Huse, J, Huska, M, Hutter, B, Hutter, C, Hubschmann, D, Iacobuzio-Donahue, C, Imbusch, C, Imielinski, M, Imoto, S, Isaacs, W, Isaev, K, Ishikawa, S, Iskar, M, Islam, S, Ittmann, M, Ivkovic, S, Izarzugaza, J, Jacquemier, J, Jakrot, V, Jamieson, N, Jang, G, Jang, S, Jayaseelan, J, Jayasinghe, R, Jefferys, S, Jegalian, K, Jennings, J, Jeon, S, Jerman, L, Ji, Y, Johansson, P, Johns, A, Johns, J, Johnson, R, Johnson, T, Jolly, C, Joly, Y, Jonasson, J, Jones, C, Jones, D, Jones, N, Jones, S, Jonkers, J, Ju, Y, Juhl, H, Jung, J, Juul, M, Juul, R, Juul, S, Jager, N, Kabbe, R, Kahles, A, Kahraman, A, Kakavand, H, Kalimuthu, S, von Kalle, C, Kang, K, Karaszi, K, Karlan, B, Karsch, D, Kasaian, K, Kassahn, K, Katai, H, Katoh, H, Kawakami, Y, Kay, J, Kazakoff, S, Kazanov, M, Keays, M, Kebebew, E, Kefford, R, Kellis, M, Kench, J, Kennedy, C, Kerssemakers, J, Khoo, D, Khoo, V, Khuntikeo, N, Khurana, E, Kilpinen, H, 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Livingstone, J, Livitz, D, Livni, N, Lochovsky, L, Loeffler, M, Long, G, Lopez-Guillermo, A, Lou, S, Lovat, L, Lu, Y, Luchini, C, Lungu, I, Luo, X, Luxton, H, Lynch, A, Lype, L, Lopez, C, Lopez-Otin, C, Ma, E, Ma, Y, Macgrogan, G, Macrae, S, Macintyre, G, Madsen, T, Maejima, K, Mafficini, A, Maglinte, D, Maitra, A, Majumder, P, Malcovati, L, Malikic, S, Malleo, G, Mann, G, Mantovani-Loffler, L, Marchal, K, Marchegiani, G, Mardis, E, Marin, M, Markowetz, F, Markowski, J, Marks, J, Marques-Bonet, T, Marra, M, Marsden, L, Martens, J, Martin-Subero, J, Martincorena, I, Martinez-Fundichely, A, Maruvka, Y, Mashl, R, Massie, C, Matthew, T, Matthews, L, Mayer, E, Mayes, S, Mayo, M, Mbabaali, F, Mccune, K, Mcdermott, U, Mcgillivray, P, Mclellan, M, Mcpherson, J, Mcpherson, T, Meier, S, Meng, A, Meng, S, Menzies, A, Merrett, N, Merson, S, Meyerson, M, Meyerson, W, Mieczkowski, P, Mihaiescu, G, Mijalkovic, S, Mijalkovic-Lazic, A, Mikkelsen, T, Milella, M, Mileshkin, L, Miller, C, Miller, D, 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[0000-0002-5487-7225], Prokopec, Stephenie D. [0000-0001-7936-8577], Boutros, Paul C. [0000-0003-0553-7520], Apollo - University of Cambridge Repository, Tampere University, BioMediTech, TAYS Cancer Centre, Basic (bio-) Medical Sciences, Li, Constance H [0000-0002-5487-7225], Prokopec, Stephenie D [0000-0001-7936-8577], Boutros, Paul C [0000-0003-0553-7520], Medical Oncology

المصدر: Nature Communications, 11 (1)
Nature communications, vol 11, iss 1
11:4330
Nature Communications
Li, C H, Prokopec, S D, Sun, R X, Yousif, F, Schmitz, N, PCAWG Tumour Subtypes and Clinical Translation, Boutros, P C & PCAWG Consortium 2020, ' Sex differences in oncogenic mutational processes ', Nature Communications, vol. 11, 4330 . https://doi.org/10.1038/s41467-020-17359-2Test
Nature Communications, 11
Digital.CSIC. Repositorio Institucional del CSIC
instname
Li, Constance H; Prokopec, Stephenie D; Sun, Ren X; Yousif, Fouad; Schmitz, Nathaniel; Boutros, Paul C (2020). Sex differences in oncogenic mutational processes. Nature communications, 11(1), p. 4330. 10.1038/s41467-020-17359-2 <http://dx.doi.org/10.1038/s41467-020-17359-2Test>
RUO. Repositorio Institucional de la Universidad de Oviedo
Nature communications, 11 (1
Nature communications, 11(1):4330. Nature Publishing Group
NATURE COMMUNICATIONS
Nature Communications, 11, 1
Li, C H, Prokopec, S D, Sun, R X, Yousif, F, Schmitz, N, Boutros, P C, PCAWG Tumour Subtypes and Clinical Translation & Brunak, S 2020, ' Sex differences in oncogenic mutational processes ', Nature Communications, vol. 11, no. 1, 4330 . https://doi.org/10.1038/s41467-020-17359-2Test
Nature Communications, Vol 11, Iss 1, Pp 1-24 (2020)
Dipòsit Digital de la UB
Universidad de Barcelona
Li, C H, Prokopec, S D, Sun, R X, Yousif, F, Schmitz, N & Boutros, P C 2020, ' Sex differences in oncogenic mutational processes ', Nat Commun, vol. 11, no. 1, pp. 4330 . https://doi.org/10.1038/s41467-020-17359-2Test
Nature Communications, 11(1):4330. Nature Publishing Group

مصطلحات موضوعية: sex differences, Male, Colorectal cancer, Kynferði, 02 engineering and technology, 0302 clinical medicine, DISPARITIES, Epidemiology of cancer, Cancer genomics, lcsh:Science, Càncer, Cancer genetics, Genome informatics, Cancer genomics, Oncogenes, Cancer genetics, Exome, Cancer, 0303 health sciences, Mutation, Neoplasms -- genetics, 1184 Genetics, developmental biology, physiology, Neoplasms/genetics, 3. Good health, 030220 oncology & carcinogenesis, Medical genetics, 0210 nano-technology, Human, Sex characteristics, medicine.medical_specialty, Science, Genomic Instability, General Biochemistry, Genetics and Molecular Biology, RC0254, Càncer -- Epidemiologia, Open Reading Frames, 03 medical and health sciences, SDG 3 - Good Health and Well-being, Chromosomal Instability, Sex differences, Genetics, Humans, beta Catenin -- genetics, Sex organ, SIGNATURES, 45, RC0254 Neoplasms. Tumors. Oncology (including Cancer), Oncogenes, medicine.disease, 692/4028/67/69, Cancérologie, Genòmica, Logistic Models, 030104 developmental biology, lcsh:Q, PCAWG Tumour Subtypes and Clinical Translation, Human genome, 119, 0301 basic medicine, Medizin, General Physics and Astronomy, medicine.disease_cause, Bioinformatics, Genome informatics, Genome, Neoplasms, 38/23, Medicine and Health Sciences, Body Size, beta Catenin, Sex Characteristics, 318 Medical biotechnology, Women's cancers Radboud Institute for Molecular Life Sciences [Radboudumc 17], Multidisciplinary, article, 3rd-DAS, 021001 nanoscience & nanotechnology, humanities, Women's cancers Radboud Institute for Health Sciences [Radboudumc 17], Causality, oncology, 1181 Ecology, evolutionary biology, SURVIVAL, 631/114/2785, Female, Càncer -- Tractament, Oncogenes -- genetics, beta Catenin/genetics, 3122 Cancers, 610 Medicine & health, QH426 Genetics, Biology, Cancer epidemiology, Rare Diseases, 631/67/68, Krabbameinsrannsóknir, medicine, ddc:610, Gene, QH426, 030304 developmental biology, Krabbamein, Oncogenes/genetics, Genome, Human, Sex organs, Human Genome, PCAWG Consortium, General Chemistry, GENE, Good Health and Well Being, Estudis de gènere, oncogenic mutational processes, 692/4028/67/395, Diferències entre sexes, Gender studies, 3111 Biomedicine

الوصف: Publisher's version (útgefin grein)
Sex differences have been observed in multiple facets of cancer epidemiology, treatment and biology, and in most cancers outside the sex organs. Efforts to link these clinical differences to specific molecular features have focused on somatic mutations within the coding regions of the genome. Here we report a pan-cancer analysis of sex differences in whole genomes of 1983 tumours of 28 subtypes as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium. We both confirm the results of exome studies, and also uncover previously undescribed sex differences. These include sex-biases in coding and non-coding cancer drivers, mutation prevalence and strikingly, in mutational signatures related to underlying mutational processes. These results underline the pervasiveness of molecular sex differences and strengthen the call for increased consideration of sex in molecular cancer research.
We thank all the members of the Boutros lab for insightful discussions. This study was conducted with the support of the Ontario Institute for Cancer Research to P.C.B. through funding provided by the Government of Ontario. This work was supported by the Discovery Frontiers: Advancing Big Data Science in Genomics Research program, which is jointly funded by the Natural Sciences and Engineering Research Council (NSERC) of Canada, the Canadian Institutes of Health Research (CIHR), Genome Canada and the Canada Foundation for Innovation (CFI). P.C.B. was supported by a Terry Fox Research Institute New Investigator Award and a CIHR New Investigator Award. This work was supported by an NSERC Discovery grant and by Canadian Institutes of Health Research, grant #SVB-145586, to P.C.B. This work was supported by the NIH/NCI under award number P30CA016042 and an operating grant from the National Cancer Institute Early Detection Research Network (1U01CA214194-01). We acknowledge the contributions of the many clinical networks across ICGC and TCGA who provided samples and data to the PCAWG Consortium, and the contributions of the Technical Working Group and the Germline Working Group of the PCAWG Consortium for collation, realignment and harmonised variant calling of the cancer genomes used in this study. We thank the patients and their families for their participation in the individual ICGC and TCGA projects.

وصف الملف: application/pdf; application/application/pdf; 1 full-text file(s): application/pdf; application/zip; text/xml; fulltext; Electronic

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a728e03fc4c3f01c49f94ad9a871270cTest
http://hdl.handle.net/11577/3348317Test

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المساهمون: Medical Oncology, Pathology, Bailey, Matthew H. [0000-0003-4526-9727], Dursi, Lewis Jonathan [0000-0002-4697-798X], Wang, Liang-Bo [0000-0001-6977-9348], Dong, Guanlan [0000-0002-4747-6036], Weerasinghe, Amila [0000-0003-3568-5823], Li, Shantao [0000-0002-5440-2780], Saksena, Gordon [0000-0001-6630-7935], Ellrott, Kyle [0000-0002-6573-5900], Wheeler, David A. [0000-0002-9056-6299], Getz, Gad [0000-0002-0936-0753], Gerstein, Mark B. [0000-0002-9746-3719], Apollo - University of Cambridge Repository, CCA - Cancer biology and immunology, Graduate School, Laboratory Genetic Metabolic Diseases, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, CCA -Cancer Center Amsterdam, Bailey, M, Meyerson, W, Dursi, L, Wang, L, Dong, G, Liang, W, Weerasinghe, A, Li, S, Kelso, S, Akbani, R, Anur, P, Buchanan, A, Chiotti, K, Covington, K, Creason, A, Ding, L, Ellrott, K, Fan, Y, Foltz, S, Getz, G, Hale, W, Haussler, D, Hess, J, Hutter, C, Kandoth, C, Kasaian, K, Kasapi, M, Larson, D, Leshchiner, I, Letaw, J, Ma, S, Mclellan, M, Men, Y, Mills, G, Niu, B, Peto, M, Radenbaugh, A, Reynolds, S, Saksena, G, Sofia, H, Stewart, C, Struck, A, Stuart, J, Wang, W, Weinstein, J, Wheeler, D, Wong, C, Xi, L, Ye, K, Bieg, M, Boutros, P, Buchhalter, I, Butler, A, Chen, K, Chong, Z, Drechsel, O, Jonathan Dursi, L, Eils, R, Espiritu, S, Fulton, R, Gao, S, Gelpi, J, Gerstein, M, Gonzalez, S, Gut, I, Hach, F, Heinold, M, Hinton, J, Hu, T, 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Sir James Mackenzie Institute for Early Diagnosis, University of St Andrews. Cellular Medicine Division, University of St Andrews. Statistics, University of St Andrews. School of Medicine, University of Zurich, Gerstein, Mark B, Ding, Li, Bailey, Matthew H [0000-0003-4526-9727], Wheeler, David A [0000-0002-9056-6299], Gerstein, Mark B [0000-0002-9746-3719], Faculty of Economic and Social Sciences and Solvay Business School, Lauri Antti Aaltonen / Principal Investigator, Genome-Scale Biology (GSB) Research Program, Department of Medical and Clinical Genetics, Organismal and Evolutionary Biology Research Programme, Helsinki Institute for Information Technology, Institute of Biotechnology, Bioinformatics, Department of Computer Science, Faculty of Medicine, HUS Helsinki and Uusimaa Hospital District

المصدر: Nature Communications, 11(1):4748. Nature Publishing Group
Nature communications, 11(1):4748. Nature Publishing Group
Nature communications, 11 (1
NATURE COMMUNICATIONS
Nature Communications, 11 (1)
Nature Communications, Vol 11, Iss 1, Pp 1-27 (2020)
Bailey, M H, Meyerson, W U, Dursi, L J, Wang, L B, Dong, G, Liang, W W, Weerasinghe, A, Li, S, Kelso, S, Akbani, R, Anur, P, Bailey, M H, Buchanan, A, Chiotti, K, Covington, K, Creason, A, Ding, L, Weischenfeldt, J, Brunak, S, Ding, L, Favero, F, MC3 Working Group, PCAWG novel somatic mutation calling methods working group & PCAWG Consortium 2020, ' Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples ', Nature Communications, vol. 11, no. 1, 4748 . https://doi.org/10.1038/s41467-020-18151-yTest
Bailey, Matthew H; Meyerson, William U; Dursi, Lewis Jonathan; Wang, Liang-Bo; Dong, Guanlan; Liang, Wen-Wei; Weerasinghe, Amila; Li, Shantao; Kelso, Sean; Saksena, Gordon; Ellrott, Kyle; Wendl, Michael C; Wheeler, David A; Getz, Gad; Simpson, Jared T; Gerstein, Mark B; Ding, Li (2020). Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples. Nature Communications, 11(1), p. 4748. Springer Nature 10.1038/s41467-020-18151-y <http://dx.doi.org/10.1038/s41467-020-18151-yTest>
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Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)

مصطلحات موضوعية: VARIANTS, 0302 clinical medicine, 706/648/697/129/2043, Databases, Genetic, Cancer genomics, SOMATIC POINT MUTATIONS, Càncer, lcsh:Science, Exome, Exome sequencing, Cancer, Base Composition, Neoplasms -- genetics, 1184 Genetics, developmental biology, physiology, 3100 General Physics and Astronomy, 3. Good health, 030220 oncology & carcinogenesis, Science & Technology - Other Topics, Transformació genètica, Genetic databases, Erfðarannsóknir, Human, GENES, Science, 1600 General Chemistry, General Biochemistry, Genetics and Molecular Biology, RC0254, 03 medical and health sciences, Genetic, SDG 3 - Good Health and Well-being, 1300 General Biochemistry, Genetics and Molecular Biology, Exome Sequencing, Genetics, Humans, Author Correction, Retrospective Studies, Whole genome sequencing, Comparative genomics, Science & Technology, RC0254 Neoplasms. Tumors. Oncology (including Cancer), INSERTIONS, DNA, PERFORMANCE, Human genetics, Communication and replication, Cancérologie, 692/4028/67/69, Genòmica, 030104 developmental biology, Mutation, Genome mutation, Human genome, lcsh:Q, COMPREHENSIVE CHARACTERIZATION, Genètica, 0301 basic medicine, Medizin, General Physics and Astronomy, Genome, Whole Exome Sequencing, Genetic transformation, International Cancer Genome Consortium, Neoplasms, 631/114/2399, Genamengi, Medicine and Health Sciences, Medicine(all), Women's cancers Radboud Institute for Molecular Life Sciences [Radboudumc 17], Multidisciplinary, 318 Medical biotechnology, Exome -- genetics, article, Exons, Women's cancers Radboud Institute for Health Sciences [Radboudumc 17], Multidisciplinary Sciences, CAPTURE, 1181 Ecology, evolutionary biology, oncology, DNA, Intergenic, 139, Medical Genetics, Biotechnology, ICGC/TCGA Pan-Cancer Analysis, 3122 Cancers, 610 Medicine & health, 45/23, QH426 Genetics, Biology, MC3 Working Group, Databases, Germline mutation, PCAWG novel somatic mutation calling methods working group, Krabbameinsrannsóknir, Cancer Genome Atlas, Genome, Human -- genetics, ddc:610, QH426, Medicinsk genetik, Krabbamein, Intergenic, Whole Genome Sequencing, Genome, Human, Human Genome, PCAWG Consortium, DAS, General Chemistry, DELETIONS, Good Health and Well Being, 10032 Clinic for Oncology and Hematology, 3111 Biomedicine, 631/1647/2217/748

الوصف: MC3 Working Group: Rehan Akbani21, Pavana Anur22, Matthew H. Bailey1,2,3, Alex Buchanan9, Kami Chiotti9, Kyle Covington12,23, Allison Creason9, Li Ding1,2,3,20, Kyle Ellrott9, Yu Fan21, Steven Foltz1,2, Gad Getz8,14,15,16, Walker Hale12, David Haussler24,25, Julian M. Hess8,26, Carolyn M. Hutter27, Cyriac Kandoth28, Katayoon Kasaian29,30, Melpomeni Kasapi27, Dave Larson1 , Ignaty Leshchiner8, John Letaw31, Singer Ma32, Michael D. McLellan1,3,20, Yifei Men32, Gordon B. Mills33,34, Beifang Niu35, Myron Peto22, Amie Radenbaugh24, Sheila M. Reynolds36, Gordon Saksena8, Heidi Sofia27, Chip Stewart8, Adam J. Struck31, Joshua M. Stuart24,37, Wenyi Wang21, John N. Weinstein38, David A. Wheeler12,13, Christopher K. Wong24,39, Liu Xi12 & Kai Ye40,41 21Department of Bioinformatics and Computational Biology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA. 22Molecular and Medical Genetics, OHSU Knight Cancer Institute, Oregon Health and Science University, Portland, OR 97239, USA. 23Castle Biosciences Inc, Friendswood, TX 77546, USA. 24UC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA 95064, USA. 25Howard Hughes Medical Institute, University of California Santa Cruz, Santa Cruz, CA 95064, USA. 26Massachusetts General Hospital Center for Cancer Research, Charlestown, MA 02114, USA. 27National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20894, USA. 28Marie-Josée and Henry R. Kravis Center for Molecular Oncology, Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA. 29Ontario Institute for Cancer Research, Toronto, ON M5G 0A3, Canada. 30Canada’s Michael Smith Genome Sciences Centre, BC Cancer, Vancouver, BC V5Z 4S6, Canada. 31Computational Biology Program, School of Medicine, Oregon Health and Science University, Portland, OR 97239, USA. 32DNAnexus Inc, Mountain View, CA 94040, USA. 33Department of Systems Biology, UT MD Anderson Cancer Center, Houston, TX 77030, USA. 34Precision Oncology, OHSU Knight Cancer Institute, Oregon Health and Science University, Portland, OR 97239, USA. 35Computer Network Information Center, Chinese Academy of Sciences, Beijing, China. 36Institute for Systems Biology, Seattle, WA 98109, USA. 37Department of Biomolecular Engineering, University of California Santa Cruz, Santa Cruz, CA 95064, USA. 38Department of Bioinformatics and Computational Biology and Department of Systems Biology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA. 39Biomolecular Engineering Department, University of California Santa Cruz, Santa Cruz, CA 95064, USA. 40School of Elect
PCAWG novel somatic mutation calling methods working group: Matthew H. Bailey1,2,3, Beifang Niu35, Matthias Bieg42,43, Paul C. Boutros6,44,45,46, Ivo Buchhalter43,47,48, Adam P. Butler49, Ken Chen50, Zechen Chong51, Li Ding1,2,3,20, Oliver Drechsel52,53, Lewis Jonathan Dursi6,7, Roland Eils47,48,54,55, Kyle Ellrott9, Shadrielle M. G. Espiritu6, Yu Fan21, Robert S. Fulton1,3,20, Shengjie Gao56, Josep L. l. Gelpi57,58, Mark B. Gerstein5,18,19, Gad Getz8,14,15,16, Santiago Gonzalez59,60, Ivo G. Gut52,61, Faraz Hach62,63, Michael C. Heinold47,48, Julian M. Hess8,26, Jonathan Hinton49, Taobo Hu64, Vincent Huang6, Yi Huang65,66, Barbara Hutter43,67,68, David R. Jones49, Jongsun Jung69, Natalie Jäger47, Hyung-Lae Kim70, Kortine Kleinheinz47,48, Sushant Kumar5,19, Yogesh Kumar64, Christopher M. Lalansingh6, Ignaty Leshchiner8, Ivica Letunic71, Dimitri Livitz8, Eric Z. Ma64, Yosef E. Maruvka8,26,72, R. Jay Mashl1,2, Michael D. McLellan1,3,20, Andrew Menzies49, Ana Milovanovic57, Morten Muhlig Nielsen73, Stephan Ossowski52,53,74, Nagarajan Paramasivam43,47, Jakob Skou Pedersen73,75, Marc D. Perry76,77, Montserrat Puiggròs57, Keiran M. Raine49, Esther Rheinbay8,14,72, Romina Royo57, S. Cenk Sahinalp62,78,79, Gordon Saksena8, Iman Sarrafi62,78, Matthias Schlesner47,80, Jared T. Simpson6,17, Lucy Stebbings49, Chip Stewart8, Miranda D. Stobbe52,61, Jon W. Teague49, Grace Tiao8, David Torrents57,81, Jeremiah A. Wala8,14,82, Jiayin Wang1,40,66, Wenyi Wang21, Sebastian M. Waszak60, Joachim Weischenfeldt60,83,84, Michael C. Wendl1,10,11, Johannes Werner47,85, Zhenggang Wu64, Hong Xue64, Sergei Yakneen60, Takafumi N. Yamaguchi6, Kai Ye40,41, Venkata D. Yellapantula20,86, Christina K. Yung76 & Junjun Zhang76
PCAWG Consortium: Lauri A. Aaltonen87, Federico Abascal49, Adam Abeshouse88, Hiroyuki Aburatani89, David J. Adams49, Nishant Agrawal90, Keun Soo Ahn91, Sung-Min Ahn92, Hiroshi Aikata93, Rehan Akbani21, Kadir C. Akdemir50, Hikmat Al-Ahmadie88, Sultan T. Al-Sedairy94, Fatima Al-Shahrour95, Malik Alawi96,97, Monique Albert98, Kenneth Aldape99,100, Ludmil B. Alexandrov49,101,102, Adrian Ally30, Kathryn Alsop103, Eva G. Alvarez104,105,106, Fernanda Amary107, Samirkumar B. Amin108,109,110, Brice Aminou76, Ole Ammerpohl111,112, Matthew J. Anderson113, Yeng Ang114, Davide Antonello115, Pavana Anur22, Samuel Aparicio116, Elizabeth L. Appelbaum1,117, Yasuhito Arai118, Axel Aretz119, Koji Arihiro93, Shun-ichi Ariizumi120, Joshua Armenia121, Laurent Arnould122, Sylvia Asa123,124, Yassen Assenov125, Gurnit Atwal6,126,127, Sietse Aukema112,128, J. Todd Auman129, Miriam R. Aure130, Philip Awadalla6,126, Marta Aymerich131, Gary D. Bader126, Adrian Baez-Ortega132, Matthew H. Bailey1,2,3, Peter J. Bailey133, Miruna Balasundaram30, Saianand Balu134, Pratiti Bandopadhayay8,135,136, Rosamonde E. Banks137, Stefano Barbi138, Andrew P. Barbour139,140, Jonathan Barenboim6, Jill Barnholtz-Sloan141,142, Hugh Barr143, Elisabet Barrera59, John Bartlett98,144, Javier Bartolome57, Claudio Bassi115, Oliver F. Bathe145,146, Daniel Baumhoer147, Prashant Bavi148, Stephen B. Baylin149,150, Wojciech Bazant59, Duncan Beardsmore151, Timothy A. Beck152,153, Sam Behjati49, Andreas Behren154, Beifang Niu35, Cindy Bell155, Sergi Beltran52,61, Christopher Benz156, Andrew Berchuck157, Anke K. Bergmann158, Erik N. Bergstrom101,102, Benjamin P. Berman159,160,161, Daniel M. Berney162, Stephan H. Bernhart163,164,165, Rameen Beroukhim8,14,82, Mario Berrios166, Samantha Bersani167, Johanna Bertl73,168, Miguel Betancourt169, Vinayak Bhandari6,44, Shriram G. Bhosle49, Andrew V. Biankin133,170,171,172, Matthias Bieg42,43, Darell Bigner173, Hans Binder163,164, Ewan Birney59, Michael Birrer72, Nidhan K. Biswas174, Bodil Bjerkehagen147,175, Tom Bodenheimer134, Lori Boice176, Giada Bonizzato177, Johann S. De Bono178, Arnoud Boot179,180, Moiz S. Bootwalla166, Ake Borg181, Arndt Borkhardt182, Keith A. Boroevich183,184, Ivan Borozan6, Christoph Borst185, Marcus Bosenberg186, Mattia Bosio52,53,57, Jacqueline Boultwood187, Guillaume Bourque188,189, Paul C. Boutros6,44,45,46, G. Steven Bova190, David T. Bowen49,191, Reanne Bowlby30, David D. L. Bowtell103, Sandrine Boyault192, Rich Boyce59, Jeffrey Boyd193, Alvis Brazma59, Paul Brennan194, Daniel S. Brewer195,196, Arie B. Brinkman197, Robert G. Bristow44,198,199,200,201, Russell R. Broaddus99, Jane E. Brock202, Malcolm Brock203, Annegien Broeks204, Angela N. Brooks8,24,37,82, Denise Brooks30, Benedikt Brors67,205,206, Søren Brunak207,208, Timothy J. C. Bruxner113,209, Alicia L. Bruzos104,105,106, Alex Buchanan9, Ivo Buchhalter43,47,48, Christiane Buchholz210, Susan Bullman8,82, Hazel Burke211, Birgit Burkhardt212, Kathleen H. Burns213,214, John Busanovich8,215, Carlos D. Bustamante216,217, Adam P. Butler49, Atul J. Butte218, Niall J. Byrne76, Anne-Lise Børresen-Dale130,219, Samantha J. Caesar-Johnson220, Andy Cafferkey59, Declan Cahill221, Claudia Calabrese59,60, Carlos Caldas222,223, Fabien Calvo224, Niedzica Camacho178, Peter J. Campbell49,225, Elias Campo226,227, Cinzia Cantù177, Shaolong Cao21, Thomas E. Carey228, Joana Carlevaro-Fita229,230,231, Rebecca Carlsen30, Ivana Cataldo167,177, Mario Cazzola232, Jonathan Cebon154, Robert Cerfolio233, Dianne E. Chadwick234, Dimple Chakravarty235, Don Chalmers236, Calvin Wing Yiu Chan47,237, Kin Chan238, Michelle Chan-Seng-Yue148, Vishal S. Chandan239, David K. Chang133,170, Stephen J. Chanock240, Lorraine A. Chantrill170,241, Aurélien Chateigner76,242, Nilanjan Chatterjee149,243, Kazuaki Chayama93, Hsiao-Wei Chen114,121, Jieming Chen218, Ken Chen50, Yiwen Chen21, Zhaohong Chen244, Andrew D. Cherniack8,82, Jeremy Chien245, Yoke-Eng Chiew246,247, Suet-Feung Chin222,223, Juok Cho8, Sunghoon Cho248, Jung Kyoon Choi249, Wan Choi250, Christine Chomienne251, Zechen Chong51, Su Pin Choo252, Angela Chou170,246, Angelika N. Christ113, Elizabeth L. Christie103, Eric Chuah30, Carrie Cibulskis8, Kristian Cibulskis8, Sara Cingarlini253, Peter Clapham49, Alexander Claviez254, Sean Cleary148,255, Nicole Cloonan256, Marek Cmero257,258,259, Colin C. Collins62, Ashton A. Connor255,260, Susanna L. Cooke133, Colin S. Cooper178,196,261, Leslie Cope149, Vincenzo Corbo138,177, Matthew G. Cordes1,262, Stephen M. Cordner263, Isidro Cortés-Ciriano264,265,266, Kyle Covington12,23, Prue A. Cowin267, Brian Craft24, David Craft8,268, Chad J. Creighton269, Yupeng Cun270, Erin Curley271, Ioana Cutcutache179,180, Karolina Czajka272, Bogdan Czerniak99,273, Rebecca A. Dagg274, Ludmila Danilova149, Maria Vittoria Davi275, Natalie R. Davidson276,277,278,279,280, Helen Davies49,281,282, Ian J. Davis283, Brandi N. Davis-Dusenbery284, Kevin J. Dawson49, Francisco M. De La Vega216,217,285, Ricardo De Paoli-Iseppi211, Timothy Defreitas8, Angelo P. Dei Tos286, Olivier Delaneau287,288,289, John A. Demchok220, Jonas Demeulemeester290,291, German M. Demidov52,53,74, Deniz Demircioğlu292,293, Nening M. Dennis221, Robert E. Denroche148, Stefan C. Dentro49,290,294, Nikita Desai76, Vikram Deshpande72, Amit G. Deshwar295, Christine Desmedt296,297, Jordi Deu-Pons298,299, Noreen Dhalla30, Neesha C. Dhani300, Priyanka Dhingra301,302, Rajiv Dhir303, Anthony DiBiase304, Klev Diamanti305, Li Ding1,2,3,20, Shuai Ding306, Huy Q. Dinh159, Luc Dirix307, HarshaVardhan Doddapaneni12, Nilgun Donmez62,78, Michelle T. Dow244, Ronny Drapkin308, Oliver Drechsel52,53, Ruben M. Drews223, Serge Serge49, Tim Dudderidge150,221, Ana Dueso-Barroso57, Andrew J. Dunford8, Michael Dunn309, Lewis Jonathan Dursi6,7, Fraser R. Duthie133,310, Ken Dutton-Regester311, Jenna Eagles272, Douglas F. Easton312,313, Stuart Edmonds314, Paul A. Edwards223,315, Sandra E. Edwards178, Rosalind A. Eeles178,221, Anna Ehinger316, Juergen Eils54,55, Roland Eils47,48,54,55, Adel El-Naggar99,273, Matthew Eldridge223, Kyle Ellrott9, Serap Erkek60, Georgia Escaramis53,317,318, Shadrielle M. G. Espiritu6, Xavier Estivill53,319, Dariush Etemadmoghadam103, Jorunn E. Eyfjord320, Bishoy M. Faltas280, Daiming Fan321, Yu Fan21, William C. Faquin72, Claudiu Farcas244, Matteo Fassan322, Aquila Fatima323, Francesco Favero324, Nodirjon Fayzullaev76, Ina Felau220, Sian Fereday103, Martin L. Ferguson325, Vincent Ferretti76,326, Lars Feuerbach205, Matthew A. Field327, J. Lynn Fink57,113, Gaetano Finocchiaro328, Cyril Fisher221, Matthew W. Fittall290, Anna Fitzgerald329, Rebecca C. Fitzgerald282, Adrienne M. Flanagan330, Neil E. Fleshner331, Paul Flicek59, John A. Foekens332, Kwun M. Fong333, Nuno A. Fonseca59,334, Christopher S. Foster335,336, Natalie S. Fox6, Michael Fraser6, Scott Frazer8, Milana Frenkel-Morgenstern337, William Friedman338, Joan Frigola298, Catrina C. Fronick1,262, Akihiro Fujimoto184, Masashi Fujita184, Masashi Fukayama339, Lucinda A. Fulton1 , Robert S. Fulton1,3,20, Mayuko Furuta184, P. Andrew Futreal340, Anja Füllgrabe59, Stacey B. Gabriel8, Steven Gallinger148,255,260, Carlo Gambacorti-Passerini341, Jianjiong Gao121, Shengjie Gao56, Levi Garraway82, Øystein Garred342, Erik Garrison49, Dale W. Garsed103, Nils Gehlenborg8,343, Josep L. l. Gelpi57,58, Joshy George110, Daniela S. Gerhard344, Clarissa Gerhauser345, Jeffrey E. Gershenwald346,347, Mark B. Gerstein5,18,19, Moritz Gerstung59,60, Gad Getz8,14,15,16, Mohammed Ghori49, Ronald Ghossein348, Nasra H. Giama349, Richard A. Gibbs12, Anthony J. Gill170,350, Pelvender Gill351, Dilip D. Giri348, Dominik Glodzik49, Vincent J. Gnanapragasam352,353, Maria Elisabeth Goebler354, Mary J. Goldman24, Carmen Gomez355, Santiago Gonzalez59,60, Abel Gonzalez-Perez298,299,356, Dmitry A. Gordenin357, James Gossage358, Kunihito Gotoh359, Ramaswamy Govindan3, Dorthe Grabau360, Janet S. Graham133,361, Robert C. Grant148,260, Anthony R. Green315, Eric Green27, Liliana Greger59, Nicola Grehan282, Sonia Grimaldi177, Sean M. Grimmond362, Robert L. Grossman363, Adam Grundhoff97,364, Gunes Gundem88, Qianyun Guo75, Manaswi Gupta8, Shailja Gupta365, Ivo G. Gut52,61, Marta Gut52,61, Jonathan Göke292,366, Gavin Ha8, Andrea Haake111, David Haan37, Siegfried Haas185, Kerstin Haase290, James E. Haber367, Nina Habermann60, Faraz Hach62,63, Syed Haider6, Natsuko Hama118, Freddie C. Hamdy351, Anne Hamilton267, Mark P. Hamilton368, Leng Han369, George B. Hanna370, Martin Hansmann371, Nicholas J. Haradhvala8,72, Olivier Harismendy102,372, Ivon Harliwong113, Arif O. Harmanci5,373, Eoghan Harrington374, Takanori Hasegawa375, David Haussler24,25, Steve Hawkins223, Shinya Hayami376, Shuto Hayashi375, D. Neil Hayes134,377,378, Stephen J. Hayes379,380, Nicholas K. Hayward211,311, Steven Hazell221, Yao He381, Allison P. Heath382, Simon C. Heath52,61, David Hedley300, Apurva M. Hegde38, David I. Heiman8, Michael C. Heinold47,48, Zachary Heins88, Lawrence E. Heisler152, Eva Hellstrom-Lindberg383, Mohamed Helmy384, Seong Gu Heo385, Austin J. Hepperla134, José María Heredia-Genestar386, Carl Herrmann47,48,387, Peter Hersey211, Julian M. Hess8,26, Holmfridur Hilmarsdottir320, Jonathan Hinton49, Satoshi Hirano388, Nobuyoshi Hiraoka389, Katherine A. Hoadley134,390, Asger Hobolth75,168, Ermin Hodzic78, Jessica I. Hoell182, Steve Hoffmann163,164,165,391, Oliver Hofmann392, Andrea Holbrook166, Aliaksei Z. Holik53, Michael A. Hollingsworth393, Oliver Holmes209,311, Robert A. Holt30, Chen Hong205,237, Eun Pyo Hong385, Jongwhi H. Hong394, Gerrit K. Hooijer395, Henrik Hornshøj73, Fumie Hosoda118, Yong Hou56,396, Volker Hovestadt397, William Howat352, Alan P. Hoyle134, Ralph H. Hruban149, Jianhong Hu12, Taobo Hu64, Xing Hua240, Kuan-lin Huang1,398, Mei Huang176, Mi Ni Huang179,180, Vincent Huang6, Yi Huang65,66, Wolfgang Huber60, Thomas J. Hudson272,399, Michael Hummel400, Jillian A. Hung246,247, David Huntsman401, Ted R. Hupp402, Jason Huse88, Matthew R. Huska403, Barbara Hutter43,67,68, Carolyn M. Hutter27, Daniel Hübschmann48,54,404,405,406, Christine A. Iacobuzio-Donahue348, Charles David Imbusch205, Marcin Imielinski407,408, Seiya Imoto375, William B. Isaacs409, Keren Isaev6,44, Shumpei Ishikawa410, Murat Iskar397, S. M. Ashiqul Islam244, Michael Ittmann411,412,413, Sinisa Ivkovic284, Jose M. G. Izarzugaza414, Jocelyne Jacquemier415, Valerie Jakrot211, Nigel B. Jamieson133,172,416, Gun Ho Jang148, Se Jin Jang417, Joy C. Jayaseelan12, Reyka Jayasinghe1 , Stuart R. Jefferys134, Karine Jegalian418, Jennifer L. Jennings419, Seung-Hyup Jeon250, Lara Jerman60,420, Yuan Ji421,422, Wei Jiao6, Peter A. Johansson311, Amber L. Johns170, Jeremy Johns272, Rory Johnson230,423, Todd A. Johnson183, Clemency Jolly290, Yann Joly424, Jon G. Jonasson320, Corbin D. Jones425, David R. Jones49, David T. W. Jones426,427, Nic Jones428, Steven J. M. Jones30, Jos Jonkers204, Young Seok Ju49,249, Hartmut Juhl429, Jongsun Jung69, Malene Juul73, Randi Istrup Juul73, Sissel Juul374, Natalie Jäger47, Rolf Kabbe47, Andre Kahles276,277,278,279,430, Abdullah Kahraman431,432,433, Vera B. Kaiser434, Hojabr Kakavand211, Sangeetha Kalimuthu148, Christof von Kalle405, Koo Jeong Kang91, Katalin Karaszi351, Beth Karlan435, Rosa Karlić436, Dennis Karsch437, Katayoon Kasaian29,30, Karin S. Kassahn113,438, Hitoshi Katai439, Mamoru Kato440, Hiroto Katoh410, Yoshiiku Kawakami93, Jonathan D. Kay117, Stephen H. Kazakoff209,311, Marat D. Kazanov441,442,443, Maria Keays59, Electron Kebebew444,445, Richard F. Kefford446, Manolis Kellis8,447, James G. Kench170,350,448, Catherine J. Kennedy246,247, Jules N. A. Kerssemakers47, David Khoo273, Vincent Khoo221, Narong Khuntikeo115,449, Ekta Khurana301,302,450,451, Helena Kilpinen117, Hark Kyun Kim452, Hyung-Lae Kim70, Hyung-Yong Kim415, Hyunghwan Kim250, Jaegil Kim8, Jihoon Kim453, Jong K. Kim454, Youngwook Kim455,456, Tari A. King457,458,459, Wolfram Klapper128, Kortine Kleinheinz47,48, Leszek J. Klimczak460, Stian Knappskog49,461, Michael Kneba437, Bartha M. Knoppers424, Youngil Koh462,463, Jan Komorowski305,464, Daisuke Komura410, Mitsuhiro Komura375, Gu Kong415, Marcel Kool426,465, Jan O. Korbel59,60, Viktoriya Korchina12, Andrey Korshunov465, Michael Koscher465, Roelof Koster466, Zsofia Kote-Jarai178, Antonios Koures244, Milena Kovacevic284, Barbara Kremeyer49, Helene Kretzmer164,165, Markus Kreuz467, Savitri Krishnamurthy99,468, Dieter Kube469, Kiran Kumar8, Pardeep Kumar221, Sushant Kumar5,19, Yogesh Kumar64, Ritika Kundra114,121, Kirsten Kübler8,14,72, Ralf Küppers470, Jesper Lagergren383,471, Phillip H. Lai166, Peter W. Laird472, Sunil R. Lakhani473, Christopher M. Lalansingh6, Emilie Lalonde6, Fabien C. Lamaze6, Adam Lambert351, Eric Lander8, Pablo Landgraf474,475, Luca Landoni115, Anita Langerød130, Andrés Lanzós230,231,423, Denis Larsimont476, Erik Larsson477, Mark Lathrop189, Loretta M. S. Lau478, Chris Lawerenz55, Rita T. Lawlor177, Michael S. Lawrence8,72,183, Alexander J. Lazar99,108, Xuan Le479, Darlene Lee30, Donghoon Lee5, Eunjung Alice Lee480, Hee Jin Lee417, Jake June-Koo Lee264,266, Jeong-Yeon Lee481, Juhee Lee482, Ming Ta Michael Lee340, Henry Lee-Six49, Kjong-Van Lehmann276,277,278,279,430, Hans Lehrach483, Dido Lenze400, Conrad R. Leonard209,311, Daniel A. Leongamornlert49,178, Ignaty Leshchiner8, Louis Letourneau484, Ivica Letunic71, Douglas A. Levine88,485, Lora Lewis12, Tim Ley486, Chang Li56,396, Constance H. Li6,44, Haiyan Irene Li30, Jun Li21, Lin Li56, Shantao Li5, Siliang Li56,396, Xiaobo Li56,396, Xiaotong Li5, Xinyue Li56, Yilong Li49, Han Liang21, Sheng-Ben Liang234, Peter Lichter68,397, Pei Lin8, Ziao Lin8,487, W. M. Linehan488, Ole Christian Lingjærde489, Dongbing Liu56,396, Eric Minwei Liu88,301,302, Fei-Fei Liu201,490, Fenglin Liu381,491, Jia Liu492, Xingmin Liu56,396, Julie Livingstone6, Dimitri Livitz8, Naomi Livni221, Lucas Lochovsky5,19,110, Markus Loeffler467, Georgina V. Long211, Armando Lopez-Guillermo493, Shaoke Lou5,19, David N. Louis72, Laurence B. Lovat117, Yiling Lu38, Yong-Jie Lu162,494, Youyong Lu495,496,497, Claudio Luchini167, Ilinca Lungu144,148, Xuemei Luo152, Hayley J. Luxton117, Andy G. Lynch223,315,498, Lisa Lype36, Cristina López111,112, Carlos López-Otín499, Eric Z. Ma64, Yussanne Ma30, Gaetan MacGrogan500, Shona MacRae501, Geoff Macintyre223, Tobias Madsen73, Kazuhiro Maejima184, Andrea Mafficini177, Dennis T. Maglinte166,502, Arindam Maitra174, Partha P. Majumder174, Luca Malcovati232, Salem Malikic62,78, Giuseppe Malleo115, Graham J. Mann211,246,503, Luisa Mantovani-Löffler504, Kathleen Marchal505,506, Giovanni Marchegiani115, Elaine R. Mardis1,193,507, Adam A. Margolin31, Maximillian G. Marin37, Florian Markowetz223,315, Julia Markowski403, Jeffrey Marks508, Tomas Marques-Bonet61,81,386,509, Marco A. Marra30, Luke Marsden351, John W. M. Martens332, Sancha Martin49,510, Jose I. Martin-Subero81,511, Iñigo Martincorena49, Alexander Martinez-Fundichely301,302,451 Yosef E. Maruvka8,26,72, R. Jay Mashl1,2, Charlie E. Massie223, Thomas J. Matthew37, Lucy Matthews178, Erik Mayer221,512, Simon Mayes513, Michael Mayo30, Faridah Mbabaali272, Karen McCune514, Ultan McDermott49, Patrick D. McGillivray19, Michael D. McLellan1,3,20, John D. McPherson148,272,515, John R. McPherson179,180, Treasa A. McPherson260, Samuel R. Meier8, Alice Meng516, Shaowu Meng134, Andrew Menzies49, Neil D. Merrett115,517, Sue Merson178, Matthew Meyerson8,14,82, William U. Meyerson4,5, Piotr A. Mieczkowski518, George L. Mihaiescu76, Sanja Mijalkovic284, Ana Mijalkovic Mijalkovic-Lazic284, Tom Mikkelsen519, Michele Milella253, Linda Mileshkin103, Christopher A. Miller1 , David K. Miller113,170, Jessica K. Miller272, Gordon B. Mills33,34, Ana Milovanovic57, Sarah Minner520, Marco Miotto115, Gisela Mir Arnau267, Lisa Mirabello240, Chris Mitchell103, Thomas J. Mitchell49,315,352, Satoru Miyano375, Naoki Miyoshi375, Shinichi Mizuno521, Fruzsina Molnár-Gábor522, Malcolm J. Moore300, Richard A. Moore30, Sandro Morganella49, Quaid D. Morris127,490, Carl Morrison523,524, Lisle E. Mose134, Catherine D. Moser349, Ferran Muiños298,299, Loris Mularoni298,299, Andrew J. Mungall30, Karen Mungall30, Elizabeth A. Musgrove133, Ville Mustonen525,526,527, David Mutch528, Francesc Muyas52,53,74, Donna M. Muzny12, Alfonso Muñoz59, Jerome Myers529, Ola Myklebost461, Peter Möller530, Genta Nagae89, Adnan M. Nagrial170, Hardeep K. Nahal-Bose76, Hitoshi Nakagama531, Hidewaki Nakagawa184, Hiromi Nakamura118, Toru Nakamura388, Kaoru Nakano184, Tannistha Nandi532, Jyoti Nangalia49, Mia Nastic284, Arcadi Navarro61,81,386, Fabio C. P. Navarro19, David E. Neal223,352, Gerd Nettekoven533, Felicity Newell209,311, Steven J. Newhouse59, Yulia Newton37, Alvin Wei Tian Ng534, Anthony Ng535, Jonathan Nicholson49, David Nicol221, Yongzhan Nie321,536, G. Petur Nielsen72, Morten Muhlig Nielsen73, Serena Nik-Zainal49,281,282,537, Michael S. Noble8, Katia Nones209,311, Paul A. Northcott538, Faiyaz Notta148,539, Brian D. O’Connor76,540, Peter O’Donnell541, Maria O’Donovan282, Sarah O’Meara49, Brian Patrick O’Neill542, J. Robert O’Neill543, David Ocana59, Angelica Ochoa88, Layla Oesper544, Christopher Ogden221, Hideki Ohdan93, Kazuhiro Ohi375, Lucila Ohno-Machado244, Karin A. Oien523,545, Akinyemi I. Ojesina546,547,548, Hidenori Ojima549, Takuji Okusaka550, Larsson Omberg551, Choon Kiat Ong552, Stephan Ossowski52,53,74, German Ott553, B. F. Francis Ouellette76,554, Christine P’ng6, Marta Paczkowska6, Salvatore Paiella115, Chawalit Pairojkul523, Marina Pajic170, Qiang Pan-Hammarström56,555, Elli Papaemmanuil49, Irene Papatheodorou59, Nagarajan Paramasivam43,47, Ji Wan Park385, Joong-Won Park556, Keunchil Park557,558, Kiejung Park559, Peter J. Park264,266, Joel S. Parker518, Simon L. Parsons124, Harvey Pass560, Danielle Pasternack272, Alessandro Pastore276, Ann-Marie Patch209,311, Iris Pauporté251, Antonio Pea115, John V. Pearson209,311, Chandra Sekhar Pedamallu8,14,82, Jakob Skou Pedersen73,75, Paolo Pederzoli115, Martin Peifer270, Nathan A. Pennell561, Charles M. Perou129,518, Marc D. Perry76,77, Gloria M. Petersen562, Myron Peto22, Nicholas Petrelli563, Robert Petryszak59, Stefan M. Pfister426,465,564, Mark Phillips424, Oriol Pich298,299, Hilda A. Pickett478, Todd D. Pihl565, Nischalan Pillay566, Sarah Pinder567, Mark Pinese170, Andreia V. Pinho568, Esa Pitkänen60, Xavier Pivot569, Elena Piñeiro-Yáñez95, Laura Planko533, Christoph Plass345, Paz Polak8,14,15, Tirso Pons570, Irinel Popescu571, Olga Potapova572, Aparna Prasad52, Shaun R. Preston573, Manuel Prinz47, Antonia L. Pritchard311, Stephenie D. Prokopec6, Elena Provenzano574, Xose S. Puente499, Sonia Puig176, Montserrat Puiggròs57, Sergio Pulido-Tamayo505,506, Gulietta M. Pupo246, Colin A. Purdie575, Michael C. Quinn209,311, Raquel Rabionet52,53,576, Janet S. Rader577, Bernhard Radlwimmer397, Petar Radovic284, Benjamin Raeder60, Keiran M. Raine49, Manasa Ramakrishna49, Kamna Ramakrishnan49, Suresh Ramalingam578, Benjamin J. Raphael579, W. Kimryn Rathmell580, Tobias Rausch60, Guido Reifenberger475, Jüri Reimand6,44, Jorge Reis-Filho348, Victor Reuter348, Iker Reyes-Salazar298, Matthew A. Reyna579, Sheila M. Reynolds36, Esther Rheinbay8,14,72, Yasser Riazalhosseini189, Andrea L. Richardson323, Julia Richter111,128, Matthew Ringel581, Markus Ringnér181, Yasushi Rino582, Karsten Rippe405, Jeffrey Roach583, Lewis R. Roberts349, Nicola D. Roberts49, Steven A. Roberts584, A. Gordon Robertson30, Alan J. Robertson113, Javier Bartolomé Rodriguez57, Bernardo Rodriguez-Martin104,105,106, F. Germán Rodríguez-González83,332, Michael H. A. Roehrl44,123,148,234,585,586, Marius Rohde587, Hirofumi Rokutan440, Gilles Romieu588, Ilse Rooman170, Tom Roques262, Daniel Rosebrock8, Mara Rosenberg8,72, Philip C. Rosenstiel589, Andreas Rosenwald590, Edward W. Rowe221,591, Romina Royo57, Steven G. Rozen179,180,592, Yulia Rubanova17,127, Mark A. Rubin423,593,594,595,596, Carlota Rubio-Perez298,299,597, Vasilisa A. Rudneva60, Borislav C. Rusev177, Andrea Ruzzenente598, Gunnar Rätsch276,277,278,279,280,430, Radhakrishnan Sabarinathan298,299,599, Veronica Y. Sabelnykova6, Sara Sadeghi30, S. Cenk Sahinalp62,78,79, Natalie Saini357, Mihoko Saito-Adachi440, Gordon Saksena8, Adriana Salcedo6, Roberto Salgado600, Leonidas Salichos5,19, Richard Sallari8, Charles Saller601, Roberto Salvia115, Michelle Sam272, Jaswinder S. Samra115,602, Francisco Sanchez-Vega114,121, Chris Sander276,603,604, Grant Sanders134, Rajiv Sarin605, Iman Sarrafi62,78, Aya Sasaki-Oku184, Torill Sauer489, Guido Sauter520, Robyn P. M. Saw211, Maria Scardoni167, Christopher J. Scarlett170,606, Aldo Scarpa177, Ghislaine Scelo194, Dirk Schadendorf68,607, Jacqueline E. Schein30, Markus B. Schilhabel589, Matthias Schlesner47,80, Thorsten Schlomm84,608, Heather K. Schmidt1 , Sarah-Jane Schramm246, Stefan Schreiber609, Nikolaus Schultz121, Steven E. Schumacher8,323, Roland F. Schwarz59,403,405,610, Richard A. Scolyer211,448,602, David Scott428, Ralph Scully611, Raja Seethala612, Ayellet V. Segre8,613, Iris Selander260, Colin A. Semple434, Yasin Senbabaoglu276, Subhajit Sengupta614, Elisabetta Sereni115, Stefano Serra585, Dennis C. Sgroi72, Mark Shackleton103, Nimish C. Shah352, Sagedeh Shahabi234, Catherine A. Shang329, Ping Shang211, Ofer Shapira8,323, Troy Shelton271, Ciyue Shen603,604, Hui Shen615, Rebecca Shepherd49, Ruian Shi490, Yan Shi134, Yu-Jia Shiah6, Tatsuhiro Shibata118,616, Juliann Shih8,82, Eigo Shimizu375, Kiyo Shimizu617, Seung Jun Shin618, Yuichi Shiraishi375, Tal Shmaya285, Ilya Shmulevich36, Solomon I. Shorser6, Charles Short59, Raunak Shrestha62, Suyash S. Shringarpure217, Craig Shriver619, Shimin Shuai6,126, Nikos Sidiropoulos83, Reiner Siebert112,620, Anieta M. Sieuwerts332, Lina Sieverling205,237, Sabina Signoretti202,621, Katarzyna O. Sikora177, Michele Simbolo138, Ronald Simon520, Janae V. Simons134, Jared T. Simpson6,17, Peter T. Simpson473, Samuel Singer115,458, Nasa Sinnott-Armstrong8,217, Payal Sipahimalani30, Tara J. Skelly390, Marcel Smid332, Jaclyn Smith622, Karen Smith-McCune514, Nicholas D. Socci276, Heidi J. Sofia27, Matthew G. Soloway134, Lei Song240, Anil K. Sood623,624,625, Sharmila Sothi626, Christos Sotiriou244, Cameron M. Soulette37, Paul N. Span627, Paul T. Spellman22, Nicola Sperandio177, Andrew J. Spillane211, Oliver Spiro8, Jonathan Spring628, Johan Staaf181, Peter F. Stadler163,164,165, Peter Staib629, Stefan G. Stark277,279,618,630, Lucy Stebbings49, Ólafur Andri Stefánsson631, Oliver Stegle59,60,632, Lincoln D. Stein6,126, Alasdair Stenhouse633, Chip Stewart8, Stephan Stilgenbauer634, Miranda D. Stobbe52,61, Michael R. Stratton49, Jonathan R. Stretch211, Adam J. Struck31, Joshua M. Stuart24,37, Henk G. Stunnenberg396,635, Hong Su56,396, Xiaoping Su99, Ren X. Sun6, Stephanie Sungalee60, Hana Susak52,53, Akihiro Suzuki89,636, Fred Sweep637, Monika Szczepanowski128, Holger Sültmann67,638, Takashi Yugawa617, Angela Tam30, David Tamborero298,299, Benita Kiat Tee Tan639, Donghui Tan518, Patrick Tan180,532,592,640, Hiroko Tanaka375, Hirokazu Taniguchi616, Tomas J. Tanskanen641, Maxime Tarabichi49,290, Roy Tarnuzzer220, Patrick Tarpey642, Morgan L. Taschuk152, Kenji Tatsuno89, Simon Tavaré223,643, Darrin F. Taylor113, Amaro Taylor-Weiner8, Jon W. Teague49, Bin Tean Teh180,592,640,644,645, Varsha Tembe246, Javier Temes104,105, Kevin Thai76, Sarah P. Thayer393, Nina Thiessen30, Gilles Thomas646, Sarah Thomas221, Alan Thompson221, Alastair M. Thompson633, John F. Thompson211, R. Houston Thompson647, Heather Thorne103, Leigh B. Thorne176, Adrian Thorogood424, Grace Tiao8, Nebojsa Tijanic284, Lee E. Timms272, Roberto Tirabosco648, Marta Tojo106, Stefania Tommasi649, Christopher W. Toon170, Umut H. Toprak48,650, David Torrents57,81, Giampaolo Tortora651,652, Jörg Tost653, Yasushi Totoki118, David Townend654, Nadia Traficante103, Isabelle Treilleux655,656, Jean-Rémi Trotta61, Lorenz H. P. Trümper469, Ming Tsao124,539, Tatsuhiko Tsunoda183,657,658,659, Jose M. C. Tubio104,105,106, Olga Tucker660, Richard Turkington661, Daniel J. Turner513, Andrew Tutt323, Masaki Ueno376, Naoto T. Ueno662, Christopher Umbricht151,213,663, Husen M. Umer305,664, Timothy J. Underwood665, Lara Urban59,60, Tomoko Urushidate616, Tetsuo Ushiku339, Liis Uusküla-Reimand666,667, Alfonso Valencia57,81, David J. Van Den Berg166, Steven Van Laere307, Peter Van Loo290,291, Erwin G. Van Meir668, Gert G. Van den Eynden307, Theodorus Van der Kwast123, Naveen Vasudev137, Miguel Vazquez57,669, Ravikiran Vedururu267, Umadevi Veluvolu518, Shankar Vembu490,670, Lieven P. C. Verbeke506,671, Peter Vermeulen307, Clare Verrill351,672, Alain Viari177, David Vicente57, Caterina Vicentini177, K. Vijay Raghavan365, Juris Viksna673, Ricardo E. Vilain674, Izar Villasante57, Anne Vincent-Salomon635, Tapio Visakorpi190, Douglas Voet8, Paresh Vyas311,351, Ignacio Vázquez-García49,86,675,676, Nick M. Waddell209, Nicola Waddell209,311, Claes Wadelius677, Lina Wadi6, Rabea Wagener111,112, Jeremiah A. Wala8,14,82, Jian Wang56, Jiayin Wang1,40,66, Linghua Wang12, Qi Wang465, Wenyi Wang21, Yumeng Wang21, Zhining Wang220, Paul M. Waring523, Hans-Jörg Warnatz483, Jonathan Warrell5,19, Anne Y. Warren352,678, Sebastian M. Waszak60, David C. Wedge49,294,679, Dieter Weichenhan345, Paul Weinberger680, John N. Weinstein38, Joachim Weischenfeldt60,83,84, Daniel J. Weisenberger166, Ian Welch681, Michael C. Wendl1,10,11, Johannes Werner47,85, Justin P. Whalley61,682, David A. Wheeler12,13, Hayley C. Whitaker117, Dennis Wigle683, Matthew D. Wilkerson518, Ashley Williams244, James S. Wilmott211, Gavin W. Wilson6,148, Julie M. Wilson148, Richard K. Wilson1,684, Boris Winterhoff685, Jeffrey A. Wintersinger17,127,384, Maciej Wiznerowicz686,687, Stephan Wolf688, Bernice H. Wong689, Tina Wong1,30, Winghing Wong690, Youngchoon Woo250, Scott Wood209,311, Bradly G. Wouters44, Adam J. Wright6, Derek W. Wright133,691, Mark H. Wright217, Chin-Lee Wu72, Dai-Ying Wu285, Guanming Wu692, Jianmin Wu170, Kui Wu56,396, Yang Wu179,180, Zhenggang Wu64, Liu Xi12, Tian Xia693, Qian Xiang76, Xiao Xiao66, Rui Xing497, Heng Xiong56,396, Qinying Xu209,311, Yanxun Xu694, Hong Xue64, Shinichi Yachida118,695, Sergei Yakneen60, Rui Yamaguchi375, Takafumi N. Yamaguchi6, Masakazu Yamamoto120, Shogo Yamamoto89, Hiroki Yamaue376, Fan Yang490, Huanming Yang56, Jean Y. 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M. van Deurzen715, Marc J. van de Vijver523, L. van’t Veer716 & Christian von Mering433,717
The Cancer Genome Atlas (TCGA) and International Cancer Genome Consortium (ICGC) curated consensus somatic mutation calls using whole exome sequencing (WES) and whole genome sequencing (WGS), respectively. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, which aggregated whole genome sequencing data from 2,658 cancers across 38 tumour types, we compare WES and WGS side-by-side from 746 TCGA samples, finding that ~80% of mutations overlap in covered exonic regions. We estimate that low variant allele fraction (VAF < 15%) and clonal heterogeneity contribute up to 68% of private WGS mutations and 71% of private WES mutations. We observe that ~30% of private WGS mutations trace to mutations identified by a single variant caller in WES consensus efforts. WGS captures both ~50% more variation in exonic regions and un-observed mutations in loci with variable GC-content. Together, our analysis highlights technological divergences between two reproducible somatic variant detection efforts.

وصف الملف: application/pdf; text/xml; application/zip; 2 full-text file(s): application/pdf; application/application/pdf; fulltext; s41467-020-18151-y.pdf - application/pdf; Electronic

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79caf69aa08507159a37977adcb4937bTest
https://www.bib.irb.hr/1104730Test