المؤلفون: Hehir-Kwa, Jayne Y, Marschall, Tobias, Kloosterman, Wigard P, Francioli, Laurent C, Baaijens, Jasmijn A, Dijkstra, Louis J, Abdellaoui, Abdel, Koval, Vyacheslav, Thung, Djie Tjwan, Wardenaar, René, Renkens, Ivo, Coe, Bradley P, Deelen, Patrick, de Ligt, Joep, Lameijer, Eric-Wubbo, van Dijk, Freerk, Hormozdiari, Fereydoun, Genome of the Netherlands Consortium, Uitterlinden, André G, van Duijn, Cornelia M, Eichler, Evan E, de Bakker, Paul IW, Swertz, Morris A, Wijmenga, Cisca, van Ommen, Gert-Jan B, Slagboom, P Eline, Boomsma, Dorret I, Schönhuth, Alexander, Ye, Kai, Guryev, Victor

المصدر: Nature communications. 7(1)

مصطلحات موضوعية: Genome of the Netherlands Consortium, Chromosomes, Humans, RNA, Polymerase Chain Reaction, Sequence Analysis, DNA, Sequence Analysis, RNA, Computational Biology, Genomics, Gene Deletion, Genotype, Haplotypes, Linkage Disequilibrium, Polymorphism, Single Nucleotide, Genome, Human, Algorithms, Software, Netherlands, INDEL Mutation, Genomic Structural Variation, Sequence Analysis, DNA, Polymorphism, Single Nucleotide, Genome, Human

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/54n4z1k5Test

المؤلفون: Kloosterman, Wigard P, Francioli, Laurent C, Hormozdiari, Fereydoun, Marschall, Tobias, Hehir-Kwa, Jayne Y, Abdellaoui, Abdel, Lameijer, Eric-Wubbo, Moed, Matthijs H, Koval, Vyacheslav, Renkens, Ivo, van Roosmalen, Markus J, Arp, Pascal, Karssen, Lennart C, Coe, Bradley P, Handsaker, Robert E, Suchiman, Eka D, Cuppen, Edwin, Thung, Djie Tjwan, McVey, Mitch, Wendl, Michael C, Consortium, Genome of the Netherlands, Uitterlinden, André, van Duijn, Cornelia M, Swertz, Morris A, Wijmenga, Cisca, van Ommen, GertJan B, Slagboom, P Eline, Boomsma, Dorret I, Schönhuth, Alexander, Eichler, Evan E, de Bakker, Paul IW, Ye, Kai, Guryev, Victor

المصدر: Genome Research. 25(6)

مصطلحات موضوعية: Genetics, Human Genome, Alleles, Amino Acid Sequence, Female, Genetic Variation, Genome, Human, Genomics, Haplotypes, Humans, INDEL Mutation, Male, Molecular Sequence Data, Mutation Rate, Polymorphism, Single Nucleotide, Retroelements, Sequence Alignment, Sequence Analysis, DNA, Genome of Netherlands Consortium, Biological Sciences, Medical and Health Sciences, Bioinformatics

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/1vz5t8mcTest

المؤلفون: Nersisyan, Lilit, Nikoghosyan, Maria, Arakelyan, Arsen, Francioli, Laurent, Menelaou, A. (Androniki), Pulit, S.L. (Sara L.), Elbers, C.C. (Clara C.), Kloosterman, Wigard, van Setten, J. (Jessica), Nijman, Isaac, Renkens, Ivo, de Bakker, P.I.W. (Paul I. W.), Dijk, Freerk, Neerincx, Pieter, Deelen, Patrick, Kanterakis, Alexandros, Dijkstra, Martijn, Byelas, H. (Heorhiy), van der Velde, K.J. (K. Joeri), Platteel, Mathieu, Swertz, M.A. (Morris A.), Wijmenga, Cisca, Palamara, P.F. (Pier Francesco), Pe’er, I. (Itsik), Ye, K. (Kai), Lameijer, Eric-Wubbo, Moed, M.H. (Matthijs H.), Beekman, M. (Marian), Craen, Anton, Suchiman, H.E.D. (H. Eka D.), Slagboom, Eline, Guryev, Victor, Abdellaoui, Abdel, Jan Hottenga, J. (Jouke), Kattenberg, M. (Mathijs), Willemsen, Gonneke, Boomsma, Dorret, van Leeuwen, E.M. (Elisabeth M.), Karssen, Lennart, Amin, N. (Najaf), Rivadeneira, F. (Fernando), Isaacs, A. (Aaron), Hofman, A. (Albert), Uitterlinden, André, Duijn, Cornelia, van Oven, M. (Mannis), Kayser, M. (Manfred), Vermaat, Martijn, Laros, Jeroen, Dunnen, Johan, Enckevort, David, Mei, Hailiang, Li, M. (Mingkun), Stoneking, M. (Mark), Schaik, Barbera, Bot, Jan, Marschall, Tobias, Schönhuth, Alexander, Hehir-Kwa, Jayne, Handsaker, Robert, Polak, P. (Paz), Sohail, M. (Mashaal), Vuzman, D. (Dana), Estrada, Karol, McCarroll, S.A. (Steven A.), Sunyaev, S.R. (Shamil R.), Hormozdiari, Fereydoun, Koval, Vyacheslav, Medina-Gomez, C. (Carolina), Oostra, B. (Ben), Veldink, Jan, van den Berg, L.H. (Leonard H.), Pitts, S.J. (Steven J.), Potluri, S. (Shobha), Sundar, P. (Purnima), Cox, D.R. (David R.), Knijff, Peter, Li, Q. (Qibin), Li, Y. (Yingrui), Du, Yuanping, Chen, Ruoyan, Cao, H. (Hongzhi), Wang, J. (Jun), Li, N. (Ning), Cao, S. (Sujie), Bovenberg, Jasper, Ommen, Gert-Jan, The Genome of the Netherlands Consortium

المساهمون: Biological Psychology, APH - Health Behaviors & Chronic Diseases, APH - Personalized Medicine, Amsterdam Neuroscience - Mood, Anxiety, Psychosis, Stress & Sleep, APH - Mental Health, APH - Methodology, Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Department of Health and Life Sciences, Groningen Research Institute for Asthma and COPD (GRIAC), Stem Cell Aging Leukemia and Lymphoma (SALL), Experimental Immunology, CCA - Cancer biology and immunology, Epidemiology and Data Science, Amsterdam Gastroenterology Endocrinology Metabolism, Epidemiology, Internal Medicine, Genetic Identification, Clinical Genetics, Genome of the Netherlands Consortium

المصدر: Nersisyan, L, Nikoghosyan, M, Francioli, L C, Menelaou, A, Pulit, S L, Elbers, C C, Kloosterman, W P, van Setten, J, Nijman, I J, Renkens, I, de Bakker, P I W, van Dijk, F, Neerincx, P B T, Deelen, P, Kanterakis, A, Dijkstra, M, Byelas, H, van der Velde, K J, Platteel, M, Swertz, M A, Wijmenga, C, Palamara, P F, Pe'er, I, Ye, K, Lameijer, E-W, Moed, M H, Beekman, M, de Craen, A J M, Suchiman, H E D, Slagboom, P E, Guryev, V, Abdellaoui, A, Hottenga, J J, Kattenberg, M, Willemsen, G, Boomsma, D I, van Leeuwen, E M, Karssen, L C, Amin, N, Rivadeneira, F, Isaacs, A, Hofman, A, Uitterlinden, A G, van Duijn, C M, van Oven, M, Kayser, M, Vermaat, M, Laros, J F J, den Dunnen, J T, van Enckevort, D, Mei, H, Li, M, Stoneking, M, van Schaik, B D C, Bot, J, Marschall, T, Schonhuth, A, Hehir-Kwa, J Y, Handsaker, R E, Polak, P, Sohail, M, Vuzman, D, Estrada, K, McCarroll, S A, Sunyaev, S R, Hormozdiari, F, Koval, V, Medina-Gomez, C, Oostra, B, Veldink, J H, van den Berg, L H, Pitts, S J, Potluri, S, Sundar, P, Cox, D R, de Knijff, P, Li, Q, Li, Y, Du, Y, Chen, R, Cao, H, Wang, J, Li, N, Cao, S, Bovenberg, J A, van Ommen, G-J B & Arakelyan, A 2019, ' WGS-based telomere length analysis in Dutch family trios implicates stronger maternal inheritance and a role for RRM1 gene ', Scientific Reports, vol. 9, 18758 . https://doi.org/10.1038/s41598-019-55109-7Test
Scientific Reports, 9(1):18758, 1-9. Nature Publishing Group
Scientific Reports, 9(1):18758. Nature Publishing Group
Scientific Reports, 9(1). Nature Publishing Group
Scientific Reports, 9. NATURE PUBLISHING GROUP
Nature Scientific Reports, 9(1)
Scientific Reports, Vol 9, Iss 1, Pp 1-9 (2019)
Scientific Reports, 9:18758. Nature Publishing Group
Scientific reports, 9(1):18758. Nature Publishing Group
Scientific reports, vol 9, iss 1
Nersisyan, L, Arakelyan, A, Abdellaoui, A, Jan Hottenga, J, Kattenberg, M, Willemsen, G, Boomsma, D I & The Genome of the Netherlands consortium 2019, ' WGS-based telomere length analysis in Dutch family trios implicates stronger maternal inheritance and a role for RRM1 gene ', Scientific Reports, vol. 9, no. 1, 18758, pp. 1-9 . https://doi.org/10.1038/s41598-019-55109-7Test
Scientific Reports

مصطلحات موضوعية: Male, Telomere Homeostasis/genetics, Netherlands Twin Register (NTR), Non-Mendelian inheritance, lcsh:Medicine, Datasets as Topic, Ribonucleoside Diphosphate Reductase/genetics, Genome of the Netherlands consortium, Genome informatics, Genome, 0302 clinical medicine, Models, 80 and over, Inheritance Patterns, lcsh:Science, Child, Netherlands, Genetics, Aged, 80 and over, 0303 health sciences, Multidisciplinary, Age Factors, Functional genomics, Single Nucleotide, ASSOCIATION, Telomere, Middle Aged, 030220 oncology & carcinogenesis, Trait, Female, Maternal Inheritance, Biotechnology, Maternal Age, Adult, Ribonucleoside Diphosphate Reductase, Adolescent, Offspring, PROTEINS, Quantitative trait locus, Biology, Polymorphism, Single Nucleotide, Article, Paternal Age, 03 medical and health sciences, Young Adult, Sex Factors, LUNG-CANCER, Genetic, Humans, Polymorphism, Telomere/metabolism, General, Gene, METAANALYSIS, 030304 developmental biology, Aged, Whole genome sequencing, Models, Genetic, Whole Genome Sequencing, Human Genome, lcsh:R, Telomere Homeostasis, SIZE, SUBUNIT, CELLS, Linear Models, lcsh:Q, Genome-Wide Association Study

وصف الملف: application/pdf; text/plain; application/x-tika-ooxml; application/vnd.openxmlformats-officedocument.spreadsheetml.sheet

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1bbec0f3bca0eb566284734623f469e3Test
https://curis.ku.dk/ws/files/237702127/WGS_based_telomere_length_analysis_in_Dutch_family_trios_implicates_stronger_maternal_inheritance_and_a_role_for_RRM1_gene.pdfTest

المؤلفون: Hehir-Kwa, Jayne, Marschall, Tobias, Kloosterman, Wigard, Francioli, Laurent, Baaijens, Jasmijn, Dijkstra, Louis, Abdellaoui, Abdel, Koval, Vyacheslav, Thung, (), Djie Tjwan, Wardenaar, René, Renkens, Ivo, Coe, Bradley, Deelen, Patrick, Ligt, Joep, Lameijer, Eric-Wubbo, Dijk, Freerk, Hormozdiari, Fereydoun, Uitterlinden, André, Duijn, Cornelia, Eichler, Evan, Bakker, Paul, Swertz, Morris, Wijmenga, Cisca, Ommen, Gert-Jan, Slagboom, Eline, Boomsma, Dorret, Schönhuth, Alexander, Ye, Kai, Guryev, Victor, Bovenberg, Jasper, Craen, Anton, Beekman, Marian, Hofman, Albert, Willemsen, Gonneke, Wolffenbuttel, Bruce, Platteel, Mathieu, Du, Yuanping, Chen, Ruoyan, Cao, Hongzhi, Cao, Rui, Sun, Yushen, Cao, Jeremy Sujie, Neerincx, Pieter, Dijkstra, Martijn, Byelas, George, Kanterakis, Alexandros, Bot, Jan, Vermaat, Martijn, Laros, Jeroen, Dunnen, Johan, Knijff, Peter, Karssen, Lennart, van Leeuwen, Elisa, Amin, Najaf, Rivadeneira, Fernando, Estrada, Karol, Hottenga, Jouke-Jan, Kattenberg, Mathijs, Enckevort, David, Mei, Hailiang, Santcroos, Mark, Schaik, Barbera, Handsaker, Robert, McCarroll, Steven, Ko, Arthur, Sudmant, Peter, Nijman, Isaac

المساهمون: Internal Medicine, Epidemiology, Biological Psychology, Amsterdam Neuroscience - Mood, Anxiety, Psychosis, Stress & Sleep, Bioinformatics, Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Stem Cell Aging Leukemia and Lymphoma (SALL), Groningen Research Institute for Asthma and COPD (GRIAC), Adult Psychiatry, Epidemiology and Data Science, APH - Methodology, AII - Inflammatory diseases, AII - Cancer immunology, CCA - Cancer biology and immunology, APH - Personalized Medicine, ACS - Amsterdam Cardiovascular Sciences, AII - Amsterdam institute for Infection and Immunity, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, ANS - Amsterdam Neuroscience, CCA -Cancer Center Amsterdam

المصدر: Nature Communications, 7:12989. Nature Publishing Group
Nature Communications
Nature Communications, Vol 7, Iss 1, Pp 1-10 (2016)
Hehir-Kwa, J Y, Marschall, T, Kloosterman, W P, Francioli, L C, Baaijens, J A, Dijkstra, L J, Abdellaoui, A, Koval, V, Thung, D T, Wardenaar, R, Renkens, I, Coe, B P, Deelen, P, de Ligt, J, Lameijer, E W, Dijk, F, Hormozdiari, F, Uitterlinden, A G, van Duijn, C M, Eichler, E E, Bakker, P I W, Swertz, M A, Wijmenga, C, van Ommen, G J B, Slagboom, P E, Boomsma, D I, Schönhuth, A, Ye, K & Guryev, V 2016, ' A high-quality human reference panel reveals the complexity and distribution of genomic structural variants ', Nature Communications, vol. 7, 12989 . https://doi.org/10.1038/ncomms12989Test
Nature Communications, 7
Nature communications, vol 7, iss 1
Nature communications, 7:12989. Nature Publishing Group
Nature Communications [E], 7. Nature Publishing Group

مصطلحات موضوعية: 0301 basic medicine, Netherlands Twin Register (NTR), Chemistry(all), IMPACT, General Physics and Astronomy, SUSCEPTIBILITY, Genome informatics, Biochemistry, Genome, Polymerase Chain Reaction, Linkage Disequilibrium, DISEASE, INDEL Mutation, IMPUTATION, 2.1 Biological and endogenous factors, Copy-number variation, Aetiology, Netherlands, Genetics, Multidisciplinary, Genomics, Single Nucleotide, ASSOCIATION, Genome of the Netherlands Consortium, Sequence Analysis, Algorithms, Human, Biotechnology, Genotype, DATABASE, Science, Genomic Structural Variation, Computational biology, Physics and Astronomy(all), Biology, Polymorphism, Single Nucleotide, General Biochemistry, Genetics and Molecular Biology, Article, Chromosomes, GENETIC ARCHITECTURE, Structural variation, 03 medical and health sciences, Journal Article, Humans, Polymorphism, COPY NUMBER VARIATION, Whole genome sequencing, Biochemistry, Genetics and Molecular Biology(all), Genome, Human, Sequence Analysis, RNA, DELETION, Human Genome, Computational Biology, General Chemistry, Sequence Analysis, DNA, DNA, 030104 developmental biology, TRIOS, Haplotypes, Next-generation sequencing, RNA, Human genome, Generic health relevance, Imputation (genetics), Gene Deletion, Software, Genetics and Molecular Biology(all)

وصف الملف: application/pdf; image/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a94368ffbaf67544d51e423204c9e3bTest
https://pub.uni-bielefeld.de/record/2941790Test

المؤلفون: Francioli, Laurent C., Polak, Paz P., Koren, Amnon, Menelaou, Androniki, Chun, Sung, Renkens, Ivo, van Duijn, Cornelia M., Swertz, Morris, Wijmenga, Cisca, van Ommen, Gertjan, Slagboom, P. Eline, Boomsma, Dorret I., Ye, Kai, Guryev, Victor, Arndt, Peter F., Kloosterman, Wigard P., de Bakker, Paul I. W., Sunyaev, Shamil R.

المصدر: Francioli , L C , Polak , P P , Koren , A , Menelaou , A , Chun , S , Renkens , I , van Duijn , C M , Swertz , M , Wijmenga , C , van Ommen , G , Slagboom , P E , Boomsma , D I , Ye , K , Guryev , V , Arndt , P F , Kloosterman , W P , de Bakker , P I W , Sunyaev , S R & Genome Netherlands Consortium 2015 , ' Genome-wide patterns and properties of de novo mutations ....

مصطلحات موضوعية: DNA-SEQUENCING DATA, RECOMBINATION RATES, POPULATION, DISEASE, SUBSTITUTION, POLYMORPHISM, RESOLUTION, RADIATION, FRAMEWORK, ELEMENTS

العلاقة: https://research.rug.nl/en/publications/eb8bb667-af9e-4a22-b523-97671a070699Test

الإتاحة: https://doi.org/10.1038/ng.3292Test
https://hdl.handle.net/11370/eb8bb667-af9e-4a22-b523-97671a070699Test
https://research.rug.nl/en/publications/eb8bb667-af9e-4a22-b523-97671a070699Test

المؤلفون: Kloosterman, Wigard P., Francioli, Laurent C., Hormozdiari, Fereydoun, Marschall, Tobias, Hehir-Kwa, Jayne Y., Abdellaoui, Abdel, Lameijer, Eric Wubbo, Moed, Matthijs H., Koval, Vyacheslav, Renkens, Ivo, Van Roosmalen, Markus J., Arp, Pascal, Karssen, Lennart C., Coe, Bradley P., Handsaker, Robert E., Suchiman, Eka D., Cuppen, Edwin, Thung, Djie Tjwan, McVey, Mitch, Wendl, Michael C., Uitterlinden, André, Van Duijn, Cornelia M., Swertz, Morris A., Wijmenga, Cisca, Van Ommen, Gert Jan B, Slagboom, P. Eline, Boomsma, Dorret I., Schönhuth, Alexander, Eichler, Evan E., De Bakker, Paul I W, Ye, Kai, Guryev, Victor, Bovenberg, Jasper A., De Craen, Anton J M, Beekman, Marian, Hofman, Albert, Willemsen, Gonneke, Wolffenbuttel, Bruce, Platteel, Mathieu, Du, Yuanping, Chen, Ruoyan, Cao, Hongzhi, Cao, Rui, Sun, Yushen, Cao, Jeremy Sujie, Van Dijk, Freerk, Neerincx, Pieter B T, Deelen, Patrick, Dijkstra, Martijn, Byelas, George, Kanterakis, Alexandros, Bot, Jan, Vermaat, Martijn, Laros, Jeroen F J, Den Dunnen, Johan T., De Knijff, Peter, Van Leeuwen, Elisa M., Amin, Najaf, Rivadeneira, Fernando, Estrada, Karol, De Ligt, Joep, Hottenga, Jouke Jan, Kattenberg, V. Mathijs, Van Enckevort, David, Mei, Hailiang, Santcroos, Mark, Van Schaik, Barbera D C, McCarroll, Steven A., Ko, Arthur, Sudmant, Peter, Nijman, Isaac J.

المساهمون: Adult Psychiatry, Epidemiology and Data Science, ACS - Amsterdam Cardiovascular Sciences, AII - Amsterdam institute for Infection and Immunity, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, ANS - Amsterdam Neuroscience, CCA -Cancer Center Amsterdam, Biological Psychology, Neuroscience Campus Amsterdam - Neurobiology of Mental Health, Internal Medicine, Epidemiology, Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Stem Cell Aging Leukemia and Lymphoma (SALL), Groningen Research Institute for Asthma and COPD (GRIAC)

المصدر: Genome research, 25(6), 792-801. Cold Spring Harbor Laboratory Press
Genome Research, 25, 6, pp. 792-801
Genome Research, 25(6), 792-801
Genome Research, 25(6), 792-801. Cold Spring Harbor Laboratory Press
Kloosterman, W P, Francioli, L C, Hormozdiari, F, Marschall, T, Hehir-Kwa, J Y, Abdellaoui, A, Lameijer, E W, Moed, M H, Koval, V, Renkens, I, van Roosmalen, M J, Arp, P, Karssen, L C, Coe, B P, Handsaker, R E, Suchiman, H E D, Cuppen, E, Tjwan Thung, D, McVey, M, Wendl, M C, Uitterlinden, A G, van Duijn, C M, Swertz, M A, Wijmenga, C, van Ommen, G J B, Slagboom, P E, Boomsma, D I, Schönhuth, A, Eichler, E E, Bakker, P I W, Ye, K & Guryev, V 2015, ' Characteristics of de novo structural changes in the human genome ', Genome Research, vol. 25, no. 6, pp. 792-801 . https://doi.org/10.1101/gr.185041.114Test
Genome Research, 25(6), 792. Cold Spring Harbor Laboratory Press
Genome research, vol 25, iss 6
Genome Research, 25, 792-801
Genome Research, 25(6), 792-801. COLD SPRING HARBOR LAB PRESS, PUBLICATIONS DEPT

مصطلحات موضوعية: Male, Netherlands Twin Register (NTR), Mutation rate, INTELLECTUAL DISABILITY, Retrotransposon, Genome of Netherlands Consortium, VARIANTS, Medical and Health Sciences, Genome, 0302 clinical medicine, INDEL Mutation, Mutation Rate, Genetics(clinical), Copy-number variation, Genetics (clinical), Genetics, 0303 health sciences, education.field_of_study, food and beverages, Genomics, Single Nucleotide, Biological Sciences, Female, Sequence Analysis, Human, Retroelements, SEQUENCING DATA, Bioinformatics, Molecular Sequence Data, Population, MUTATION-RATES, POPULATION-SCALE, Biology, Polymorphism, Single Nucleotide, 03 medical and health sciences, SDG 3 - Good Health and Well-being, Humans, Amino Acid Sequence, Polymorphism, Indel, education, Alleles, 030304 developmental biology, COPY NUMBER VARIATION, INDIVIDUAL HUMAN, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], IDENTIFICATION, Genome, Human, Research, Human Genome, Genetic Variation, Sequence Analysis, DNA, DNA, GENE, Haplotypes, DISCOVERY, Human genome, Sequence Alignment, 030217 neurology & neurosurgery

وصف الملف: image/pdf; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9251dc3de0257e9c1afade755cd46fdfTest
https://pure.amc.nl/en/publications/characteristics-of-de-novo-structural-changes-in-the-human-genomeTest(195fa0c7-190d-4ec8-902c-47dd8d184f40).html