-
1دورية أكاديمية
المؤلفون: Rodriguez-Martin, Bernardo, Alvarez, Eva G, Baez-Ortega, Adrian, Zamora, Jorge, Supek, Fran, Demeulemeester, Jonas, Santamarina, Martin, Ju, Young Seok, Temes, Javier, Garcia-Souto, Daniel, Detering, Harald, Li, Yilong, Rodriguez-Castro, Jorge, Dueso-Barroso, Ana, Bruzos, Alicia L, Dentro, Stefan C, Blanco, Miguel G, Contino, Gianmarco, Ardeljan, Daniel, Tojo, Marta, Roberts, Nicola D, Zumalave, Sonia, Edwards, Paul A, Weischenfeldt, Joachim, Puiggròs, Montserrat, Chong, Zechen, Chen, Ken, Lee, Eunjung Alice, Wala, Jeremiah A, Raine, Keiran M, Butler, Adam, Waszak, Sebastian M, Navarro, Fabio CP, Schumacher, Steven E, Monlong, Jean, Maura, Francesco, Bolli, Niccolo, Bourque, Guillaume, Gerstein, Mark, Park, Peter J, Wedge, David C, Beroukhim, Rameen, Torrents, David, Korbel, Jan O, Martincorena, Iñigo, Fitzgerald, Rebecca C, Van Loo, Peter, Kazazian, Haig H, Burns, Kathleen H, PCAWG Structural Variation Working Group, Campbell, Peter J, Tubio, Jose MC, PCAWG Consortium
المصدر: Nature genetics. 52(3)
مصطلحات موضوعية: PCAWG Structural Variation Working Group, PCAWG Consortium, Humans, Neoplasms, Retroelements, Gene Rearrangement, Long Interspersed Nucleotide Elements, Genome, Human, Carcinogenesis, Genetics, Digestive Diseases, Human Genome, Cancer, Rare Diseases, Biological Sciences, Medical and Health Sciences, Developmental Biology
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/41m0s50zTest
-
2دورية أكاديمية
المؤلفون: Li, Yilong, Roberts, Nicola D, Wala, Jeremiah A, Shapira, Ofer, Schumacher, Steven E, Kumar, Kiran, Khurana, Ekta, Waszak, Sebastian, Korbel, Jan O, Haber, James E, Imielinski, Marcin, Weischenfeldt, Joachim, Beroukhim, Rameen, Campbell, Peter J
المصدر: Nature. 578(7793)
مصطلحات موضوعية: Cancer, Human Genome, Genetics, Biotechnology, Gene Rearrangement, Genetic Variation, Genome, Human, Genomics, Humans, Mutagenesis, Insertional, Neoplasms, Telomerase, PCAWG Structural Variation Working Group, PCAWG Consortium, General Science & Technology
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/55j9g5qrTest
-
3دورية أكاديمية
المؤلفون: Rheinbay, Esther, Nielsen, Morten Muhlig, Abascal, Federico, Wala, Jeremiah A, Shapira, Ofer, Tiao, Grace, Hornshøj, Henrik, Hess, Julian M, Juul, Randi Istrup, Lin, Ziao, Feuerbach, Lars, Sabarinathan, Radhakrishnan, Madsen, Tobias, Kim, Jaegil, Mularoni, Loris, Shuai, Shimin, Lanzós, Andrés, Herrmann, Carl, Maruvka, Yosef E, Shen, Ciyue, Amin, Samirkumar B, Bandopadhayay, Pratiti, Bertl, Johanna, Boroevich, Keith A, Busanovich, John, Carlevaro-Fita, Joana, Chakravarty, Dimple, Chan, Calvin Wing Yiu, Craft, David, Dhingra, Priyanka, Diamanti, Klev, Fonseca, Nuno A, Gonzalez-Perez, Abel, Guo, Qianyun, Hamilton, Mark P, Haradhvala, Nicholas J, Hong, Chen, Isaev, Keren, Johnson, Todd A, Juul, Malene, Kahles, Andre, Kahraman, Abdullah, Kim, Youngwook, Komorowski, Jan, Kumar, Kiran, Kumar, Sushant, Lee, Donghoon, Lehmann, Kjong-Van, Li, Yilong, Liu, Eric Minwei, Lochovsky, Lucas, Park, Keunchil, Pich, Oriol, Roberts, Nicola D, Saksena, Gordon, Schumacher, Steven E, Sidiropoulos, Nikos, Sieverling, Lina, Sinnott-Armstrong, Nasa, Stewart, Chip, Tamborero, David, Tubio, Jose MC, Umer, Husen M, Uusküla-Reimand, Liis, Wadelius, Claes, Wadi, Lina, Yao, Xiaotong, Zhang, Cheng-Zhong, Zhang, Jing, Haber, James E, Hobolth, Asger, Imielinski, Marcin, Kellis, Manolis, Lawrence, Michael S, von Mering, Christian, Nakagawa, Hidewaki, Raphael, Benjamin J, Rubin, Mark A, Sander, Chris, Stein, Lincoln D, Stuart, Joshua M, Tsunoda, Tatsuhiko, Wheeler, David A, Johnson, Rory, Reimand, Jüri, Gerstein, Mark, Khurana, Ekta, Campbell, Peter J, López-Bigas, Núria, PCAWG Drivers and Functional Interpretation Working Group, PCAWG Structural Variation Working Group, Weischenfeldt, Joachim, Beroukhim, Rameen, Martincorena, Iñigo, Pedersen, Jakob Skou, Getz, Gad, PCAWG Consortium
المصدر: Nature. 578(7793)
مصطلحات موضوعية: PCAWG Drivers and Functional Interpretation Working Group, PCAWG Structural Variation Working Group, PCAWG Consortium, Humans, Neoplasms, Gene Expression Regulation, Neoplastic, Mutation, Genome, Human, Databases, Genetic, DNA Breaks, INDEL Mutation, Genome-Wide Association Study, Gene Expression Regulation, Neoplastic, Genome, Human, Databases, Genetic, General Science & Technology
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/6b64z06zTest
-
4دورية أكاديمية
المؤلفون: Li, Yilong, Roberts, Nicola D, Wala, Jeremiah A, Shapira, Ofer, Schumacher, Steven E, Kumar, Kiran, Khurana, Ekta, Waszak, Sebastian, Korbel, Jan O, Haber, James E, Imielinski, Marcin, PCAWG Structural Variation Working Group, Weischenfeldt, Joachim, Beroukhim, Rameen, Campbell, Peter J, PCAWG Consortium
مصطلحات موضوعية: Gene Rearrangement, Genetic Variation, Genome, Human, Genomics, Humans, Mutagenesis, Insertional, Neoplasms, Telomerase
وصف الملف: text/xml; application/pdf; application/zip
الإتاحة: https://doi.org/10.17863/CAM.64248Test
https://www.repository.cam.ac.uk/handle/1810/317137Test -
5دورية أكاديمية
المؤلفون: Rheinbay, Esther, Nielsen, Morten Muhlig, Abascal, Federico, Wala, Jeremiah A, Shapira, Ofer, Tiao, Grace, Hornshøj, Henrik, Hess, Julian M, Juul, Randi Istrup, Lin, Ziao, Feuerbach, Lars, Sabarinathan, Radhakrishnan, Madsen, Tobias, Kim, Jaegil, Mularoni, Loris, Shuai, Shimin, Lanzós, Andrés, Herrmann, Carl, Maruvka, Yosef E, Shen, Ciyue, Amin, Samirkumar B, Bandopadhayay, Pratiti, Bertl, Johanna, Boroevich, Keith A, Busanovich, John, Carlevaro-Fita, Joana, Chakravarty, Dimple, Chan, Calvin Wing Yiu, Craft, David, Dhingra, Priyanka, Diamanti, Klev, Fonseca, Nuno A, Gonzalez-Perez, Abel, Guo, Qianyun, Hamilton, Mark P, Haradhvala, Nicholas J, Hong, Chen, Isaev, Keren, Johnson, Todd A, Juul, Malene, Kahles, Andre, Kahraman, Abdullah, Kim, Youngwook, Komorowski, Jan, Kumar, Kiran, Kumar, Sushant, Lee, Donghoon, Lehmann, Kjong-Van, Li, Yilong, Liu, Eric Minwei, Lochovsky, Lucas, Park, Keunchil, Pich, Oriol, Roberts, Nicola D, Saksena, Gordon, Schumacher, Steven E, Sidiropoulos, Nikos, Sieverling, Lina, Sinnott-Armstrong, Nasa, Stewart, Chip, Tamborero, David, Tubio, Jose MC, Umer, Husen M, Uusküla-Reimand, Liis, Wadelius, Claes, Wadi, Lina, Yao, Xiaotong, Zhang, Cheng-Zhong, Zhang, Jing, Haber, James E, Hobolth, Asger, Imielinski, Marcin, Kellis, Manolis, Lawrence, Michael S, von Mering, Christian, Nakagawa, Hidewaki, Raphael, Benjamin J, Rubin, Mark A, Sander, Chris, Stein, Lincoln D, Stuart, Joshua M, Tsunoda, Tatsuhiko, Wheeler, David A, Johnson, Rory, Reimand, Jüri, Gerstein, Mark, Khurana, Ekta, Campbell, Peter J, López-Bigas, Núria, PCAWG Drivers and Functional Interpretation Working Group, PCAWG Structural Variation Working Group, Weischenfeldt, Joachim, Beroukhim, Rameen, Martincorena, Iñigo, Pedersen, Jakob Skou, Getz, Gad, PCAWG Consortium
مصطلحات موضوعية: DNA Breaks, Databases, Genetic, Gene Expression Regulation, Neoplastic, Genome, Human, Genome-Wide Association Study, Humans, INDEL Mutation, Mutation, Neoplasms
وصف الملف: application/pdf; text/xml; application/zip
الإتاحة: https://doi.org/10.17863/CAM.64251Test
https://www.repository.cam.ac.uk/handle/1810/317140Test -
6دورية أكاديمية
المؤلفون: Rheinbay, Esther, Nielsen, Morten Muhlig, Abascal, Federico, Wala, Jeremiah A, Shapira, Ofer, Tiao, Grace, Hornshøj, Henrik, Hess, Julian M, Juul, Randi Istrup, Lin, Ziao, Feuerbach, Lars, Sabarinathan, Radhakrishnan, Madsen, Tobias, Kim, Jaegil, Mularoni, Loris, Shuai, Shimin, Lanzós, Andrés, Herrmann, Carl, Maruvka, Yosef E, Shen, Ciyue, Amin, Samirkumar B, Bandopadhayay, Pratiti, Bertl, Johanna, Boroevich, Keith A, Busanovich, John, Carlevaro-Fita, Joana, Chakravarty, Dimple, Chan, Calvin Wing Yiu, Craft, David, Dhingra, Priyanka, Diamanti, Klev, Fonseca, Nuno A, Gonzalez-Perez, Abel, Guo, Qianyun, Hamilton, Mark P, Haradhvala, Nicholas J, Hong, Chen, Isaev, Keren, Johnson, Todd A, Juul, Malene, Kahles, Andre, Kahraman, Abdullah, Kim, Youngwook, Komorowski, Jan, Kumar, Kiran, Kumar, Sushant, Lee, Donghoon, Lehmann, Kjong-Van, Li, Yilong, Liu, Eric Minwei, Lochovsky, Lucas, Park, Keunchil, Pich, Oriol, Roberts, Nicola D, Saksena, Gordon, Schumacher, Steven E, Sidiropoulos, Nikos, Sieverling, Lina, Sinnott-Armstrong, Nasa, Stewart, Chip, Tamborero, David, Tubio, Jose MC, Umer, Husen M, Uusküla-Reimand, Liis, Wadelius, Claes, Wadi, Lina, Yao, Xiaotong, Zhang, Cheng-Zhong, Zhang, Jing, Haber, James E, Hobolth, Asger, Imielinski, Marcin, Kellis, Manolis, Lawrence, Michael S, von Mering, Christian, Nakagawa, Hidewaki, Raphael, Benjamin J, Rubin, Mark A, Sander, Chris, Stein, Lincoln D, Stuart, Joshua M, Tsunoda, Tatsuhiko, Wheeler, David A, Johnson, Rory, Reimand, Jüri, Gerstein, Mark, Khurana, Ekta, Campbell, Peter J, López-Bigas, Núria, PCAWG Drivers and Functional Interpretation Working Group, PCAWG Structural Variation Working Group, Weischenfeldt, Joachim, Beroukhim, Rameen, Martincorena, Iñigo, Pedersen, Jakob Skou, Getz, Gad, PCAWG Consortium
المصدر: Nature, vol 578, iss 7793
مصطلحات موضوعية: PCAWG Drivers and Functional Interpretation Working Group, PCAWG Structural Variation Working Group, PCAWG Consortium, Humans, Neoplasms, Gene Expression Regulation, Neoplastic, Mutation, Genome, Human, Databases, Genetic, DNA Breaks, INDEL Mutation, Genome-Wide Association Study, Biotechnology, Cancer, Genetics, Human Genome, Aetiology, 2.1 Biological and endogenous factors, General Science & Technology
جغرافية الموضوع: 102 - 111
وصف الملف: application/pdf
العلاقة: qt6b64z06z; https://escholarship.org/uc/item/6b64z06zTest; https://escholarship.org/content/qt6b64z06z/qt6b64z06z.pdfTest
الإتاحة: https://doi.org/10.1038/s41586-020-1965-xTest
https://escholarship.org/uc/item/6b64z06zTest
https://escholarship.org/content/qt6b64z06z/qt6b64z06z.pdfTest -
7دورية أكاديمية
المؤلفون: Wala, Jeremiah A, Bandopadhayay, Pratiti, Greenwald, Noah F, O'Rourke, Ryan, Sharpe, Ted, Stewart, Chip, Schumacher, Steve, Li, Yilong, Weischenfeldt, Joachim, Yao, Xiaotong, Nusbaum, Chad, Campbell, Peter, Getz, Gad, Meyerson, Matthew, Zhang, Cheng-Zhong, Imielinski, Marcin, Beroukhim, Rameen
المصدر: Wala , J A , Bandopadhayay , P , Greenwald , N F , O'Rourke , R , Sharpe , T , Stewart , C , Schumacher , S , Li , Y , Weischenfeldt , J , Yao , X , Nusbaum , C , Campbell , P , Getz , G , Meyerson , M , Zhang , C-Z , Imielinski , M & Beroukhim , R 2018 , ' SvABA : genome-wide detection of structural variants and indels by local assembly ' , Genome Research , vol. 28 , no. 4 , pp. 581-591 . https://doi.org/10.1101/gr.221028.117Test
مصطلحات موضوعية: Databases, Genetic, Genome, Human/genetics, Genomic Structural Variation/genetics, Genomics, High-Throughput Nucleotide Sequencing, Humans, INDEL Mutation/genetics, Sequence Analysis, DNA, Sequence Deletion/genetics, Software, Virus Integration/genetics
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1101/gr.221028.117Test
https://curis.ku.dk/portal/da/publications/svabaTest(1d21a00c-64a4-419c-bea0-b65c8c11cee7).html
https://curis.ku.dk/ws/files/215041199/Genome_Res._2018_Wala_581_91.pdfTest -
8
المؤلفون: Yakneen, Sergei, Waszak, Sebastian M, Gertz, Michael, Korbel, Jan O, Aminou, Brice, Bartolome, Javier, Boroevich, Keith A, Boyce, Rich, Brooks, Angela N, Buchanan, Alex, Buchhalter, Ivo, Butler, Adam P, Byrne, Niall J, Cafferkey, Andy, Campbell, Peter J, Chen, Zhaohong, Cho, Sunghoon, Choi, Wan, Clapham, Peter, Davis-Dusenbery, Brandi N, De La Vega, Francisco M, Demeulemeester, Jonas, Dow, Michelle T, Dursi, Lewis Jonathan, Eils, Juergen, Eils, Roland, Ellrott, Kyle, Farcas, Claudiu, Favero, Francesco, Fayzullaev, Nodirjon, Ferretti, Vincent, Flicek, Paul, Fonseca, Nuno A, Gelpi, Josep Ll, Getz, Gad, Gibson, Bob, Grossman, Robert L, Harismendy, Olivier, Heath, Allison P, Heinold, Michael C, Hess, Julian M, Hofmann, Oliver, Hong, Jongwhi H, Hudson, Thomas J, Hutter, Barbara, Hutter, Carolyn M, Huebschmann, Daniel, Imoto, Seiya, Ivkovic, Sinisa, Jeon, Seung-Hyup, Jiao, Wei, Jung, Jongsun, Kabbe, Rolf, Kahles, Andre, Kerssemakers, Jules NA, Kim, Hyung-Lae, Kim, Hyunghwan, Kim, Jihoon, Kim, Youngwook, Kleinheinz, Kortine, Koscher, Michael, Koures, Antonios, Kovacevic, Milena, Lawerenz, Chris, Leshchiner, Ignaty, Liu, Jia, Livitz, Dimitri, Mihaiescu, George L, Mijalkovic, Sanja, Lazic, Ana Mijalkovic, Miyano, Satoru, Miyoshi, Naoki, Nahal-Bose, Hardeep K, Nakagawa, Hidewaki, Nastic, Mia, Newhouse, Steven J, Nicholson, Jonathan, O'Connor, Brian D, Ocana, David, Ohi, Kazuhiro, Ohno-Machado, Lucila, Omberg, Larsson, Ouellette, BF Francis, Paramasivam, Nagarajan, Perry, Marc D, Pihl, Todd D, Prinz, Manuel, Puiggros, Montserrat, Radovic, Petar, Raine, Keiran M, Rheinbay, Esther, Rosenberg, Mara, Royo, Romina, Raetsch, Gunnar, Saksena, Gordon, Schlesner, Matthias, Shorser, Solomon, Short, Charles, Sofia, Heidi J, Spring, Jonathan, Stein, Lincoln D, Struck, Adam J, Tiao, Grace, Tijanic, Nebojsa, Torrents, David, Van Loo, Peter, Vazquez, Miguel, Vicente, David, Wala, Jeremiah A, Wang, Zhining, Weischenfeldt, Joachim, Werner, Johannes, Williams, Ashley, Woo, Youngchoon, Wright, Adam J, Xiang, Qian, Yang, Liming, Yuen, Denis, Yung, Christina K, Zhang, Junjun
المساهمون: Graduate School, Laboratory Genetic Metabolic Diseases, AGEM - Endocrinology, metabolism and nutrition, AGEM - Inborn errors of metabolism
المصدر: Weischenfeldt, J, PCAWG Technical Working Group & PCAWG Consortium 2020, ' Butler enables rapid cloud-based analysis of thousands of human genomes ', Nature Biotechnology, vol. 38, no. 3, pp. 288-292 . https://doi.org/10.1038/s41587-019-0360-3Test
Dipòsit Digital de la UB
Universidad de Barcelona
Nature Biotechnology, 38, 288-29210.1038/s41587-019-0360-3.
Nature Biotechnology, 38 (3)
Nature Biotechnology
Nature Biotechnology, 38, 3, pp. 288-29210.1038/s41587-019-0360-3.
Nature biotechnology, 38(3), 288-292. Nature Publishing Groupمصطلحات موضوعية: Computer science, Biomedical Engineering, Bioengineering, Cloud computing, computer.software_genre, Brief Communication, Genome informatics, Genoma humà, Applied Microbiology and Biotechnology, Genome, Biologia computacional, Computational biology, 03 medical and health sciences, 0302 clinical medicine, Software, Computational platforms and environments, Cancer genome, Neoplasms, Humans, Hardware and infrastructure, ddc:610, 030304 developmental biology, VARIANT DISCOVERY, 0303 health sciences, Data processing, Science & Technology, Women's cancers Radboud Institute for Molecular Life Sciences [Radboudumc 17], Human genome, business.industry, Genome, Human, Computational Biology, Cloud Computing, Women's cancers Radboud Institute for Health Sciences [Radboudumc 17], Biotechnology & Applied Microbiology, Molecular Medicine, Anomaly detection, Data mining, business, computer, Life Sciences & Biomedicine, 030217 neurology & neurosurgery, Biotechnology
وصف الملف: application/pdf; application/application/pdf; Print-Electronic
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::124e63f841a644491514739e02746432Test
https://curis.ku.dk/portal/da/publications/butler-enables-rapid-cloudbased-analysis-of-thousands-of-human-genomesTest(a9b8745e-f509-49a3-a5f8-772ca7b055c0).html -
9
المؤلفون: Rodriguez-Martin, Bernardo, Alvarez, Eva G., Baez-Ortega, Adrian, Zamora, Jorge, Supek, Fran, Demeulemeester, Jonas, Santamarina, Martin, Ju, Young Seok, Temes, Javier, Garcia-Souto, Daniel, Detering, Harald, Li, Yilong, Rodriguez-Castro, Jorge, Dueso-Barroso, Ana, Bruzos, Alicia L., Dentro, Stefan C., Blanco, Miguel G., Contino, Gianmarco, Ardeljan, Daniel, Tojo, Marta, Roberts, Nicola D., Zumalave, Sonia, Edwards, Paul A. W., Weischenfeldt, Joachim, Puiggros, Montserrat, Chong, Zechen, Chen, Ken, Lee, Eunjung Alice, Wala, Jeremiah A., Raine, Keiran, Butler, Adam, Waszak, Sebastian M., Navarro, Fabio C. P., Schumacher, Steven E., Monlong, Jean, Maura, Francesco, Bolli, Niccolo, Bourque, Guillaume, Gerstein, Mark, Park, Peter J., Wedge, David, Beroukhim, Rameen, Torrents, David, Korbel, Jan O., Martincorena, Inigo, Fitzgerald, Rebecca C., Loo, Peter Van, Kazazian, Haig H., Burns, Kathleen H., Campbell, Peter J., Tubio, Jose M. C.
مصطلحات موضوعية: Genetics, Genome instability, 0303 health sciences, Somatic cell, Cancer, Genomics, Retrotransposon, Biology, medicine.disease, medicine.disease_cause, Genome, Structural variation, 03 medical and health sciences, 0302 clinical medicine, 030220 oncology & carcinogenesis, medicine, Carcinogenesis, 030304 developmental biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f26611270a6fda0409b4f123196408b6Test
https://doi.org/10.1101/179705Test