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dc.contributor.authorAltshuler, D.M.en_US
dc.contributor.authorDurbin, R.M.en_US
dc.contributor.authorAbecasis G.R.en_US
dc.contributor.authorBentley, D.R.en_US
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dc.contributor.authorEichler, E.E.en_US
dc.contributor.authorFlicek P.en_US
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dc.contributor.authorGibbs, R.A.en_US
dc.contributor.authorGreen, E.D.en_US
dc.contributor.authorHurles, M.E.en_US
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dc.contributor.authorMcEwen J.E.en_US
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dc.date.accessioned2016-02-08T09:44:15Z
dc.date.available2016-02-08T09:44:15Z
dc.date.issued2012en_US
dc.identifier.issn0028-0836
dc.identifier.urihttp://hdl.handle.net/11693/21285
dc.description.abstractBy 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. © 2012 Macmillan Publishers Limited. All rights reserved.en_US
dc.language.isoEnglishen_US
dc.source.titleNatureen_US
dc.relation.isversionofhttp://dx.doi.org/10.1038/nature11632en_US
dc.subjecttranscription factoren_US
dc.subjectuntranslated RNAen_US
dc.subjectBinding Sitesen_US
dc.subjectConserved Sequenceen_US
dc.subjectContinental Population Groupsen_US
dc.subjectEvolution, Molecularen_US
dc.subjectGenetic Variationen_US
dc.subjectGenetics, Medicalen_US
dc.subjectGenetics, Populationen_US
dc.subjectGenome, Humanen_US
dc.subjectGenome-Wide Association Studyen_US
dc.subjectGenomicsen_US
dc.subjectHaplotypesen_US
dc.subjectHumansen_US
dc.subjectNucleotide Motifsen_US
dc.subjectPolymorphism, Single Nucleotideen_US
dc.subjectSequence Deletionen_US
dc.subjectTranscription Factorsen_US
dc.titleAn integrated map of genetic variation from 1,092 human genomesen_US
dc.typeArticleen_US
dc.departmentDepartment of Computer Engineeringen_US
dc.citation.spage56en_US
dc.citation.epage65en_US
dc.citation.volumeNumber491en_US
dc.citation.issueNumber7422en_US
dc.identifier.doi10.1038/nature11632en_US
dc.publisherNature Publishing Groupen_US


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