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

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  • An integrated map of genetic variation from 1,092 human genomes. (Articolo in rivista) (literal)
Anno
  • 2012-01-01T00:00:00+01:00 (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. (692 co-autori) (2012)
    An integrated map of genetic variation from 1,092 human genomes.
    in Nature
    (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. (692 co-autori) (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#url
  • http://www.ncbi.nlm.nih.gov/pubmed/23128226 (literal)
Rivista
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 stituto di Ricerca Genetica e Biomedica, CNR, Monserrato, 09042 Cagliari, Italy. Andrea Angius, Fabio Busonero, Francesco Cucca, Andrea Maschio, Eleonora Porcu, Serena Sanna & Carlo Sidore e moltissime altre - vedere articolo (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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