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An integrated map of genetic variation from 1,092 human genomes
Altshuler, David M.3; Durbin, Richard M.6; Abecasis, Goncalo R.7; Bentley, David R.8; Chakravarti, Aravinda9; Clark, Andrew G.10; Donnelly, Peter1,2; Eichler, Evan E.11,12; Flicek, Paul13; Gabriel, Stacey B.3
Source PublicationNATURE
Indexed BySCI

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.

Subject Area临床医学
WOS HeadingsScience & Technology
Funding OrganizationWellcome Trust ; Medical Research Council ; British Heart Foundation ; National Basic Research Program of China (973 program) ; Chinese 863 program ; National Natural Science Foundation of China ; Shenzhen Key Laboratory of Transomics Biotechnologies ; Shenzhen Municipal Government of China ; Guangdong Innovative Research Team Program ; BMBF ; Max Planck Society ; Swiss National Science Foundation ; Swiss National Science Foundation NCCR &prime ; Frontiers in Genetics&prime ; grant ; Louis Jeantet Foundation ; Biotechnology and Biological Sciences Research Council (BBSRC) ; German Research Foundation ; Netherlands Organization for Scientific Research VENI ; Beatriu de Pinos Program ; Israeli Science Foundation ; Genome Quebec and the Ministry of Economic Development, Innovation and Trade ; National Institutes of Health (NIH) ; BAA-NIAID-DAIT-NIHAI
WOS Research AreaScience & Technology - Other Topics
WOS SubjectMultidisciplinary Sciences
WOS IDWOS:000310434500030
Citation statistics
Cited Times:5225[WOS]   [WOS Record]     [Related Records in WOS]
Document Type期刊论文
Affiliation1.Univ Copenhagen, Dept Biol, DK-2200 Copenhagen, Denmark
2.Yale Univ, Dept Comp Sci, New Haven, CT 06520 USA
3.Alacris Theranost GmbH, D-14195 Berlin, Germany
4.Yale Univ, Dept Mol Biophys & Biochem, New Haven, CT 06520 USA
5.Cold Spring Harbor Lab, Cold Spring Harbor, NY 11724 USA
6.Mt Sinai Sch Med, Dept Psychiat, New York, NY 10029 USA
7.Dankook Univ, Dept Nanobiomed Sci, Cheonan 330714, South Korea
8.Yale Univ, Dept Chem, New Haven, CT 06520 USA
9.Coriell Inst Med Res, Camden, NJ 08103 USA
10.Genet Alliance, London N1 3QP, England
Recommended Citation
GB/T 7714
Altshuler, David M.,Durbin, Richard M.,Abecasis, Goncalo R.,et al. An integrated map of genetic variation from 1,092 human genomes[J]. NATURE,2012,491(7422):56-65.
APA Altshuler, David M..,Durbin, Richard M..,Abecasis, Goncalo R..,Bentley, David R..,Chakravarti, Aravinda.,...&1000 Genomes Project Consortium.(2012).An integrated map of genetic variation from 1,092 human genomes.NATURE,491(7422),56-65.
MLA Altshuler, David M.,et al."An integrated map of genetic variation from 1,092 human genomes".NATURE 491.7422(2012):56-65.
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