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A global reference for human genetic variation
Altshuler, David M.3; Durbin, Richard M.4; Abecasis, Goncalo R.2; Bentley, David R.5; Chakravarti, Aravinda6; Clark, Andrew G.7; Donnelly, Peter8,9; Eichler, Evan E.10,11; Flicek, Paul12; Gabriel, Stacey B.13
Source PublicationNATURE
Indexed BySCI

The 1000 Genomes Project set out to provide a comprehensive description of common human genetic variation by applying whole-genome sequencing to a diverse set of individuals from multiple populations. Here we report completion of the project, having reconstructed the genomes of 2,504 individuals from 26 populations using a combination of low-coverage whole-genome sequencing, deep exome sequencing, and dense microarray genotyping. We characterized a broad spectrum of genetic variation, in total over 88 million variants (84.7 million single nucleotide polymorphisms (SNPs), 3.6 million short insertions/deletions (indels), and 60,000 structural variants), all phased onto high-quality haplotypes. This resource includes >99% of SNP variants with a frequency of >1% for a variety of ancestries. We describe the distribution of genetic variation across the global sample, and discuss the implications for common disease studies.

Subject Area临床医学
WOS HeadingsScience & Technology
Funding OrganizationWellcome Trust ; Medical Research Council UK ; UK Biotechnology and Biological Sciences Research Council ; British Heart Foundation ; Monument Trust ; European Molecular Biology Laboratory ; European Research Council ; Chinese 863 Program ; National Basic Research program of China 973 program ; Natural Science Foundation of China ; Shenzhen Municipal Government of China ; Canadian Institutes of Health Research ; Canada Research Chair ; Le Fonds de Recherche du Quebec-Sante (FRQS) ; Genome Quebec ; Ontario Ministry of Research and Innovation - Ontario Institute for Cancer Research Investigator Award ; Quebec Ministry of Economic Development, Innovation, and Exports ; German Federal Ministry of Education and Research (BMBF) ; Max Planck Society ; BMBF-EPITREAT ; German Research Foundation (Deutsche Forschungsgemeinschaft) ; Beatriu de Pinos Program ; Spanish National Institute for Health Research ; Ewha Womans University ; Japan Society for the Promotion of Science ; Louis Jeantet Foundation ; Marie Curie Actions Career Integration grant ; Swiss National Science Foundation ; NCCR "Frontiers in Genetics" ; University of Geneva ; US National Institutes of Health National Center for Biotechnology Information ; Harvard Medical School Eleanor and Miles Shore Fellowship ; Lundbeck Foundation ; NIJ ; Mary Beryl Patch Turnbull Scholar Program ; NSF Graduate Research Fellowship ; Simons Foundation SFARI ; Sloan Foundation
WOS Research AreaScience & Technology - Other Topics
WOS SubjectMultidisciplinary Sciences
WOS IDWOS:000362095100036
Citation statistics
Cited Times:5422[WOS]   [WOS Record]     [Related Records in WOS]
Document Type期刊论文
Affiliation1.Gen Hosp, Boston, MA 02114 USA
2.Harvard Univ, Sch Med, Boston, MA 02114 USA
3.Rutgers Canc Inst New Jersey, New Brunswick, NJ 08903 USA
4.Stanford Univ, Dept Genet, Stanford, CA 94305 USA
5.Stanford Univ, Dept Pathol, Stanford, CA 94305 USA
6.Ancestry Com, San Francisco, CA 94107 USA
7.DNAnexus, Mountain View, CA 94040 USA
8.Tel Aviv Univ, Dept Microbiol, IL-69978 Tel Aviv, Israel
9.Int Comp Sci Inst, Berkeley, CA 94704 USA
10.Ewha Womans Univ, Dept Life Sci, Seoul 120750, South Korea
Recommended Citation
GB/T 7714
Altshuler, David M.,Durbin, Richard M.,Abecasis, Goncalo R.,et al. A global reference for human genetic variation[J]. NATURE,2015,526(7571):68-+.
APA Altshuler, David M..,Durbin, Richard M..,Abecasis, Goncalo R..,Bentley, David R..,Chakravarti, Aravinda.,...&Genomes Project Consortium.(2015).A global reference for human genetic variation.NATURE,526(7571),68-+.
MLA Altshuler, David M.,et al."A global reference for human genetic variation".NATURE 526.7571(2015):68-+.
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