An integrated map of genetic variation from 1,092 human genomes. (Articolo in rivista)

Type
Label
  • An integrated map of genetic variation from 1,092 human genomes. (Articolo in rivista) (literal)
Anno
  • 2012-01-01T00:00:00+01:00 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi
  • 10.1038/nature11632. (literal)
Alternative label
  • 1000 Genomes Project Consortium, Abecasis GR, Auton A, Brooks LD, DePristo MA, Durbin RM, Handsaker RE, Kang HM, Marth GT, McVean GA. (2012)
    An integrated map of genetic variation from 1,092 human genomes.
    in Nature (Lond.)
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • 1000 Genomes Project Consortium, Abecasis GR, Auton A, Brooks LD, DePristo MA, Durbin RM, Handsaker RE, Kang HM, Marth GT, McVean GA. (literal)
Pagina inizio
  • 56 (literal)
Pagina fine
  • 65 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume
  • 491 (7422) (literal)
Rivista
Note
  • PubMe (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • Wellcome Trust Centre for Human Genetics, Oxford University, Oxford OX3 7BN, UK. Gil A. McVean, Peter Donnelly, Gerton Lunter, Jonathan L. Marchini, Simon Myers, Anjali Gupta-Hinch, Zamin Iqbal, Iain Mathieson, Andy Rimmer, Dionysia K. Xifara & Angeliki Kerasidou Department of Statistics, Oxford University, Oxford OX1 3TG, UK. Gil A. McVean, Peter Donnelly, Gil A. McVean (Principal Investigator), Jonathan L. Marchini, Simon Myers, Claire Churchhouse, Olivier Delaneau & Dionysia K. Xifara The Broad Institute of MIT and Harvard, 7 Cambridge Center, Cambridge, Massachusetts 02142, USA. David M. Altshuler, Stacey B. Gabriel, Eric S. Lander, Namrata Gupta, Mark J. Daly, Mark A. DePristo, Eric Banks, Gaurav Bhatia, Mauricio O. Carneiro, Guillermo del Angel, Giulio Genovese, Robert E. Handsaker, Chris Hartl, Steven A. McCarroll, James C. Nemesh, Ryan E. Poplin, Stephen F. Schaffner, Khalid Shakir, Pardis C. Sabeti, Sharon R. Grossman, Shervin Tabrizi, Ridhi Tariyal & Heng Li Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts 02114, USA. David M. Altshuler Department of Genetics, Harvard Medical School, Cambridge, Massachusetts 02142, USA. David M. Altshuler, Robert E. Handsaker & David Reich Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK. Richard M. Durbin, Matthew E. Hurles, Senduran Balasubramaniam, John Burton, Petr Danecek, Thomas M. Keane, Anja Kolb-Kokocinski, Shane McCarthy, James Stalker, Michael Quail, Qasim Ayub, Yuan Chen, Alison J. Coffey, Vincenza Colonna, Ni Huang, Luke Jostins, Heng Li, Aylwyn Scally, Klaudia Walter, Yali Xue, Yujun Zhang, Ben Blackburne, Sarah J. Lindsay, Zemin Ning, Adam Frankish, Jennifer Harrow & Chris Tyler-Smith Center for Statistical Genetics, Biostatistics, University of Michigan, Ann Arbor, Michigan 48109, USA. Gonçalo R. Abecasis, Hyun Min Kang, Paul Anderson, Tom Blackwell, Fabio Busonero, Christian Fuchsberger, Goo Jun, Andrea Maschio, Eleonora Porcu, Carlo Sidore, Adrian Tan & Mary Kate Trost (literal)
Titolo
  • An integrated map of genetic variation from 1,092 human genomes. (literal)
Abstract
  • By characterizing the geographic and functional spectrum of human genetic variation, the 1000 Genomes Project aims to build a resource to help to understand the genetic contribution to disease. Here we describe the genomes of 1,092 individuals from 14 populations, constructed using a combination of low-coverage whole-genome and exome sequencing. By developing methods to integrate information across several algorithms and diverse data sources, we provide a validated haplotype map of 38 million single nucleotide polymorphisms, 1.4 million short insertions and deletions, and more than 14,000 larger deletions. We show that individuals from different populations carry different profiles of rare and common variants, and that low-frequency variants show substantial geographic differentiation, which is further increased by the action of purifying selection. We show that evolutionary conservation and coding consequence are key determinants of the strength of purifying selection, that rare-variant load varies substantially across biological pathways, and that each individual contains hundreds of rare non-coding variants at conserved sites, such as motif-disrupting changes in transcription-factor-binding sites. This resource, which captures up to 98% of accessible single nucleotide polymorphisms at a frequency of 1% in related populations, enables analysis of common and low-frequency variants in individuals from diverse, including admixed, populations. (literal)
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