A global reference for human genetic variation.

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 0410462 Publication Model: Print Cited Medium: Internet ISSN: 1476-4687 (Electronic) Linking ISSN: 00280836 NLM ISO Abbreviation: Nature Subsets: MEDLINE

Publication: Basingstoke : Nature Publishing Group
Original Publication: London, Macmillan Journals ltd.

Internationality*; Genetic Variation/*genetics ; Genetics, Population/*standards ; Genome, Human/*genetics ; Genomics/*standards; Datasets as Topic ; Demography ; Disease Susceptibility ; Exome/genetics ; Genetics, Medical ; Genome-Wide Association Study ; Genotype ; Haplotypes/genetics ; High-Throughput Nucleotide Sequencing ; Humans ; INDEL Mutation/genetics ; Physical Chromosome Mapping ; Polymorphism, Single Nucleotide/genetics ; Quantitative Trait Loci/genetics ; Rare Diseases/genetics ; Reference Standards ; Sequence Analysis, DNA

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.

Comment in: Nature. 2015 Oct 1;526(7571):52-3. (PMID: 26432243)

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Investigator: A Auton; GR Abecasis; DM Altshuler; RM Durbin; GR Abecasis; DR Bentley; A Chakravarti; AG Clark; P Donnelly; EE Eichler; P Flicek; SB Gabriel; RA Gibbs; ED Green; ME Hurles; BM Knoppers; JO Korbel; ES Lander; C Lee; H Lehrach; ER Mardis; GT Marth; GA McVean; DA Nickerson; JP Schmidt; ST Sherry; J Wang; RK Wilson; RA Gibbs; E Boerwinkle; H Doddapaneni; Y Han; V Korchina; C Kovar; S Lee; D Muzny; JG Reid; Y Zhu; J Wang; Y Chang; Q Feng; X Fang; X Guo; M Jian; H Jiang; X Jin; T Lan; G Li; J Li; Y Li; S Liu; X Liu; Y Lu; X Ma; M Tang; B Wang; G Wang; H Wu; R Wu; X Xu; Y Yin; D Zhang; W Zhang; J Zhao; M Zhao; X Zheng; ES Lander; DM Altshuler; SB Gabriel; N Gupta; N Gharani; LH Toji; NP Gerry; AM Resch; P Flicek; J Barker; L Clarke; L Gil; SE Hunt; G Kelman; E Kulesha; R Leinonen; WM McLaren; R Radhakrishnan; A Roa; D Smirnov; RE Smith; I Streeter; A Thormann; I Toneva; B Vaughan; X Zheng-Bradley; DR Bentley; R Grocock; S Humphray; T James; Z Kingsbury; H Lehrach; R Sudbrak; MW Albrecht; VS Amstislavskiy; TA Borodina; M Lienhard; F Mertes; M Sultan; B Timmermann; ML Yaspo; ER Mardis; RK Wilson; L Fulton; R Fulton; ST Sherry; V Ananiev; Z Belaia; D Beloslyudtsev; N Bouk; C Chen; D Church; R Cohen; C Cook; J Garner; T Hefferon; M Kimelman; C Liu; J Lopez; P Meric; C O'Sullivan; Y Ostapchuk; L Phan; S Ponomarov; V Schneider; E Shekhtman; K Sirotkin; D Slotta; H Zhang; GA McVean; RM Durbin; S Balasubramaniam; J Burton; P Danecek; TM Keane; A Kolb-Kokocinski; S McCarthy; J Stalker; M Quail; RM Durbin; S Balasubramaniam; J Burton; P Danecek; TM Keane; A Kolb-Kokocinski; S McCarthy; J Stalker; M Quail; JP Schmidt; CJ Davies; J Gollub; T Webster; B Wong; Y Zhan; A Auton; CL Campbell; Y Kong; A Marcketta; RA Gibbs; F Yu; L Antunes; M Bainbridge; D Muzny; A Sabo; Z Huang; J Wang; LJ Coin; L Fang; X Guo; X Jin; G Li; Q Li; Y Li; Z Li; H Lin; B Liu; R Luo; H Shao; Y Xie; C Ye; C Yu; F Zhang; H Zheng; H Zhu; C Alkan; E Dal; F Kahveci; GT Marth; EP Garrison; D Kural; WP Lee; WF Leong; M Stromberg; AN Ward; J Wu; M Zhang; MJ Daly; MA DePristo; RE Handsaker; DM Altshuler; E Banks; G Bhatia; G Del Angel; SB Gabriel; G Genovese; N Gupta; H Li; S Kashin; ES Lander; SA McCarroll; JC Nemesh; RE Poplin; SC Yoon; J Lihm; V Makarov; AG Clark; S Gottipati; A Keinan; JL Rodriguez-Flores; JO Korbel; T Rausch; MH Fritz; AM Stütz; P Flicek; K Beal; L Clarke; A Datta; J Herrero; WM McLaren; GR Ritchie; RE Smith; D Zerbino; X Zheng-Bradley; PC Sabeti; I Shlyakhter; SF Schaffner; J Vitti; DN Cooper; EV Ball; PD Stenson; DR Bentley; B Barnes; M Bauer; RK Cheetham; A Cox; M Eberle; S Humphray; S Kahn; L Murray; J Peden; R Shaw; EE Kenny; MA Batzer; MK Konkel; JA Walker; DG MacArthur; M Lek; R Sudbrak; VS Amstislavskiy; R Herwig; ER Mardis; L Ding; DC Koboldt; D Larson; K Ye; S Gravel; A Swaroop; E Chew; T Lappalainen; Y Erlich; M Gymrek; TF Willems; JT Simpson; MD Shriver; JA Rosenfeld; CD Bustamante; SB Montgomery; FM De La Vega; JK Byrnes; AW Carroll; MK DeGorter; P Lacroute; BK Maples; 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DC Koboldt; S Gravel; CD Bustamante; DW Craig; A Christoforides; N Homer; T Izatt; ST Sherry; C Xiao; ET Dermitzakis; GR Abecasis; H Min Kang; GA McVean; MB Gerstein; S Balasubramanian; L Habegger; MB Gerstein; S Balasubramanian; L Habegger; H Yu; P Flicek; L Clarke; F Cunningham; I Dunham; D Zerbino; X Zheng-Bradley; K Lage; JB Jespersen; H Horn; SB Montgomery; MK DeGorter; E Khurana; C Tyler-Smith; Y Chen; V Colonna; Y Xue; MB Gerstein; S Balasubramanian; Y Fu; D Kim; MB Gerstein; S Balasubramanian; Y Fu; D Kim; A Auton; A Marcketta; R Desalle; A Narechania; MA Sayres; EP Garrison; RE Handsaker; S Kashin; SA McCarroll; JL Rodriguez-Flores; P Flicek; L Clarke; X Zheng-Bradley; Y Erlich; M Gymrek; TF Willems; CD Bustamante; FL Mendez; GD Poznik; PA Underhill; C Lee; E Cerveira; A Malhotra; M Romanovitch; C Zhang; GR Abecasis; L Coin; H Shao; D Mittelman; C Tyler-Smith; Q Ayub; R Banerjee; M Cerezo; Y Chen; TW Fitzgerald; S Louzada; A Massaia; S McCarthy; GR Ritchie; Y Xue; F Yang; C Tyler-Smith; 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J Zhu; W Bodmer; G Bedoya; A Ruiz-Linares; Z Cai; Y Gao; J Chu; L Peltonen; A Garcia-Montero; A Orfao; J Dutil; JC Martinez-Cruzado; TK Oleksyk; KC Barnes; RA Mathias; A Hennis; H Watson; C McKenzie; F Qadri; R LaRocque; PC Sabeti; J Zhu; X Deng; PC Sabeti; D Asogun; O Folarin; C Happi; O Omoniwa; M Stremlau; R Tariyal; M Jallow; FS Joof; T Corrah; K Rockett; D Kwiatkowski; J Kooner; TT Hiên; SJ Dunstan; NT Hang; R Fonnie; R Garry; L Kanneh; L Moses; PC Sabeti; J Schieffelin; DS Grant; C Gallo; G Poletti; D Saleheen; A Rasheed; D Saleheen; A Rasheed; LD Brooks; AL Felsenfeld; JE McEwen; Y Vaydylevich; ED Green; A Duncanson; M Dunn; JA Schloss; J Wang; H Yang; A Auton; LD Brooks; RM Durbin; EP Garrison; H Min Kang; JO Korbel; JL Marchini; S McCarthy; GA McVean; GR Abecasis; A Auton; LD Brooks; RM Durbin; EP Garrison; H Min Kang; JO Korbel; JL Marchini; S McCarthy; GA McVean; GR Abecasis

Date Created: 20151004 Date Completed: 20151026 Latest Revision: 20231113

20231215

PMC4750478

10.1038/nature15393

26432245