Information de reference pour ce titreAccession Number: | 00006056-201009020-00041.
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Author: | The International HapMap 3 Consortium 29; Principal investigators; Altshuler, David M. 1; Gibbs, Richard A. 2; Peltonen, Leena 29; Project coordination leaders; Dermitzakis, Emmanouil 3; Manuscript writing group; Schaffner, Stephen F. 1; Yu, Fuli 2; Bonnen, Penelope E. 2; Genotyping and QC; de Bakker, Paul I. W. (Co-leader) 1,4; Deloukas, Panos (Co-leader) 5; Gabriel, Stacey B. 1; Gwilliam, Rhian 5; Hunt, Sarah 5; Inouye, Michael (Co-leader) 5; Jia, Xiaoming 1; Palotie, Aarno 5,6,7; Parkin, Melissa (Co-leader) 1; Whittaker, Pamela 5; ENCODE 3 sequencing and SNP discovery; Yu, Fuli (Leader) 2; Chang, Kyle 2; Hawes, Alicia 2; Lewis, Lora R. 2; Ren, Yanru 2; Wheeler, David 2; Marie Muzny, Donna 2; Copy number variation typing and analysis; Barnes, Chris 5; Darvishi, Katayoon 8; Hurles, Matthew (Co-leader) 5; Korn, Joshua M. 1; Kristiansson, Kati 5; Lee, Charles 8; McCarroll, Steven A. (Co-leader) 1; Nemesh, James 1; Population analysis; Keinan, Alon (Leader) 9; Montgomery, Stephen B. 3; Pollack, Samuela 1; Price, Alkes L. 10; Soranzo, Nicole 5; Low frequency variation analysis; Gonzaga-Jauregui, Claudia 2; Keinan, Alon 9; Linkage disequilibrium and haplotype sharing analysis; Anttila, Verneri 5,6,7; Brodeur, Wendy 1; Daly, Mark J. 11; Leslie, Stephen 12; McVean, Gil 12; Moutsianas, Loukas 12; Nguyen, Huy 1; Schaffner, Stephen F. (Leader) 1; Zhang, Qingrun 5; Imputation; Ghori, Mohammed J. R. 5; McGinnis, Ralph (Co-leader) 5; McLaren, William 5; Price, Alkes L. (Co-leader) 10; Schaffner, Stephen F. (Co-leader) 1; Takeuchi, Fumihiko 5; Natural selection; Grossman, Sharon R. 13; Shlyakhter, Ilya 1; Hostetter, Elizabeth B. 13; Sabeti, Pardis C. (Leader) 13; Community engagement and sample collection groups; Adebamowo, Clement A. 14; Foster, Morris W. 15; Gordon, Deborah R. 16; Licinio, Julio 17; Cristina Manca, Maria 18; Marshall, Patricia A. 19; Matsuda, Ichiro 20; Ngare, Duncan 21; Ota Wang, Vivian 22; Reddy, Deepa 23; Rotimi, Charles N. 24; Royal, Charmaine D. 25; Sharp, Richard R. 26; Zeng, Changqing 27; Scientific management; Brooks, Lisa D. 28; McEwen, Jean E. 28
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Institution: | (1)Broad Institute, 7 Cambridge Center, Cambridge, Massachusetts 02138, USA. (2)Baylor College of Medicine, Human Genome Sequencing Center, Department of Molecular and Human Genetics, One Baylor Plaza, Houston, Texas 77030, USA. (3)University of Geneva, Medical School, Department of Genetic Medicine and Development, Faculty of Medicine, Geneva 1211, Switzerland. (4)Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA. (5)Wellcome Trust Sanger Institute, Department of Human Genetics, Wellcome Trust Genome Campus, Cambridge CB10 1HH, UK. (6)Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Haartmaninkatu 8, 00290 Helsinki, Finland. (7)Department of Medical Genetics, University of Helsinki and University Central Hospital, Haartmaninkatu 8, 00290 Helsinki, Finland. (8)Harvard Medical School, Brigham and Women's Hospital, Department of Pathology, Boston, Massachusetts 02115, USA. (9)Cornell University, Department of Biological Statistics and Computational Biology, 102A Weill Hall, Ithaca, New York 14853, USA. (10)Harvard School of Public Health, Departments of Epidemiology and Biostatistics, 665 Huntington Avenue, Building 2 Room 211, Boston, Massachusetts 02115, USA. (11)Massachusetts General Hospital, Center for Human Genetic Research, Simches Research Center, 185 Cambridge Street, Boston, Massachusetts 02114, USA. (12)University of Oxford, Department of Statistics, 1 South Parks Road, Oxford OX1 3TG, UK. (13)Harvard University, Department of Organismic and Evolutionary Biology, Center for Systems Biology, 52 Oxford Street, Room 469, Cambridge, Massachusetts 02215, USA. (14)University of Maryland School of Medicine, Department of Epidemiology and Preventative Medicine, N406 Institute of Human Virology, 725 West Lombard Street, Baltimore, Maryland 21201, USA. (15)University of Oklahoma, Department of Anthropology, 455 West Lindsey Room 505C, Norman, Oklahoma 73019, USA. (16)University of California, San Francisco, Department of Anthropology, History and Social Medicine, 3333 California Street Suite 485, San Francisco, California 94143-0850, USA. (17)The Australian National University, John Curtin School of Medical Research, Garran Road, Building 131, Canberra, ACT2603, Australia. (18)Institute for Oncological Study and Prevention, Florence 50139, Italy. (19)Case Western Reserve University, Department of Bioethics, School of Medicine TA200, 10900 Euclid Avenue, Cleveland, Ohio 44106-4976, USA. (20)Health Sciences University of Hokkaido, 1757 Kanazawa, Tobetsu-cho, Ishikari-gun, Hokkaido 061-0293, Japan. (21)Moi University, Department of Population and Family Health, PO Box 4606, Eldoret 30100, Kenya. (22)National Human Genome Research Institute, National Institutes of Health, 5635 Fishers Lane Suite 3039, Bethesda, Maryland 20892, USA. (23)University of Houston at Clear Lake, Department of Anthropology, 2700 Bay Area Boulevard, PO Box 295, Houston, Texas 77058-1098, USA. (24)National Human Genome Research Institute, Center for Research on Genomics and Global Health, 12 South Drive, MSC 5635, Building 12A, Room 4047, Bethesda, Maryland 20892-5635, USA. (25)Duke University, Institute for Genome Sciences and Policy, 450 Research Drive, PO Box 91009, LSRC B-Wing, Room 320B, Durham, North Carolina 27708, USA. (26)The Cleveland Clinic, Department of Bioethics, 9500 Euclid Avenue JJ60, Cleveland, Ohio 44124, USA. (27)Beijing Institute of Genomics, Chinese Academy of Science, Beijing Airport Industrial Zone B-6, Beijing 101300, China. (28)National Human Genome Research Institute, National Institutes of Health, 5635 Fishers Lane Suite 4076, Bethesda, Maryland 20892, USA (29)++Deceased.
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Title: | Integrating common and rare genetic variation in diverse human populations.[Article]
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Source: | Nature. 467(7311):52-58, September 2, 2010.
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Abstract: | : Despite great progress in identifying genetic variants that influence human disease, most inherited risk remains unexplained. A more complete understanding requires genome-wide studies that fully examine less common alleles in populations with a wide range of ancestry. To inform the design and interpretation of such studies, we genotyped 1.6 million common single nucleotide polymorphisms (SNPs) in 1,184 reference individuals from 11 global populations, and sequenced ten 100-kilobase regions in 692 of these individuals. This integrated data set of common and rare alleles, called 'HapMap 3', includes both SNPs and copy number polymorphisms (CNPs). We characterized population-specific differences among low-frequency variants, measured the improvement in imputation accuracy afforded by the larger reference panel, especially in imputing SNPs with a minor allele frequency of <=5%, and demonstrated the feasibility of imputing newly discovered CNPs and SNPs. This expanded public resource of genome variants in global populations supports deeper interrogation of genomic variation and its role in human disease, and serves as a step towards a high-resolution map of the landscape of human genetic variation.
(C) 2010 Nature Publishing Group
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19. Grossman, S. R. et al. A composite of multiple signals distinguishes causal variants in regions of positive selection. Science 327, 883-886 (2010)
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Language: | English.
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Document Type: | ARTICLES.
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Journal Subset: | Life & Biomedical Sciences. Science.
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ISSN: | 0028-0836
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NLM Journal Code: | 0410462, nsc
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DOI Number: | https://dx.doi.org/10.1038/natur...- ouverture dans une nouvelle fenêtre
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