4.8 Article

A global reference for human genetic variation


Volume 526, Issue 7571, Pages 68-+


DOI: 10.1038/nature15393




  1. Wellcome Trust [090532/Z/09/Z, 095552/Z/11/Z, WT098051, WT095908, WT109497, WT086084/Z/08/Z, WT100956/Z/13/Z, WT097307, WT0855322/Z/08/Z, WT090770/Z/09/Z, 089276/Z.09/Z]
  2. Medical Research Council UK [G0801823]
  3. UK Biotechnology and Biological Sciences Research Council [BB/I02593X/1, BB/I021213/1]
  4. British Heart Foundation
  5. Monument Trust
  6. European Molecular Biology Laboratory
  7. European Research Council [617306]
  8. Chinese 863 Program [2012AA02A201]
  9. National Basic Research program of China 973 program [2011CB809201, 2011CB809202, 2011CB809203]
  10. Natural Science Foundation of China [31161130357]
  11. Shenzhen Municipal Government of China [ZYC201105170397A]
  12. Canadian Institutes of Health Research [136855]
  13. Canada Research Chair
  14. Le Fonds de Recherche du Quebec-Sante (FRQS)
  15. Genome Quebec
  16. Ontario Ministry of Research and Innovation - Ontario Institute for Cancer Research Investigator Award
  17. Quebec Ministry of Economic Development, Innovation, and Exports [PSR-SIIRI-195]
  18. German Federal Ministry of Education and Research (BMBF) [0315428A, 01GS08201]
  19. Max Planck Society
  20. BMBF-EPITREAT [0316190A]
  21. German Research Foundation (Deutsche Forschungsgemeinschaft) [KO4037/1-1]
  22. Beatriu de Pinos Program [2006 BP-A 10144, 2009 BP-B 00274]
  23. Spanish National Institute for Health Research [PRB2 IPT13/0001-ISCIII-SGEFI/FEDER]
  24. Ewha Womans University
  25. Japan Society for the Promotion of Science [PE13075]
  26. Louis Jeantet Foundation
  27. Marie Curie Actions Career Integration grant [303772]
  28. Swiss National Science Foundation [31003A_130342]
  29. NCCR Frontiers in Genetics
  30. University of Geneva
  31. US National Institutes of Health National Center for Biotechnology Information
  32. Harvard Medical School Eleanor and Miles Shore Fellowship
  33. Lundbeck Foundation [R170-2014-1039]
  34. NIJ [2014-DN-BX-K089]
  35. Mary Beryl Patch Turnbull Scholar Program
  36. NSF Graduate Research Fellowship [DGE-1147470]
  37. Simons Foundation SFARI [SF51]
  38. Sloan Foundation
  39. [U54HG3067]
  40. [U54HG3273]
  41. [U01HG5211]
  42. [U54HG3079]
  43. [R01HG2898]
  44. [R01HG2385]
  45. [RC2HG5552]
  46. [U01HG6513]
  47. [U01HG5214]
  48. [U01HG5715]
  49. [U01HG5718]
  50. [U01HG5728]
  51. [U41HG7635]
  52. [U41HG7497]
  53. [R01HG4960]
  54. [R01HG5701]
  55. [R01HG5214]
  56. [R01HG6855]
  57. [R01HG7068]
  58. [R01HG7644]
  59. [DP2OD6514]
  60. [DP5OD9154]
  61. [R01CA166661]
  62. [R01CA172652]
  63. [P01GM99568]
  64. [R01GM59290]
  65. [R01GM104390]
  66. [T32GM7790]
  67. [R01HL87699]
  68. [R01HL104608]
  69. [T32HL94284]
  70. [HHSN268201100040C]
  71. [HHSN272201000025C]
  72. BBSRC [BB/I02593X/1, BB/I021213/1] Funding Source: UKRI
  73. MRC [G0801823] Funding Source: UKRI
  74. Swiss National Science Foundation (SNF) [31003A_130342] Funding Source: Swiss National Science Foundation (SNF)
  75. Biotechnology and Biological Sciences Research Council [BB/I021213/1, BB/I02593X/1] Funding Source: researchfish
  76. Lundbeck Foundation [R170-2014-1039] Funding Source: researchfish
  77. Medical Research Council [G0801823] Funding Source: researchfish

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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.


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