Collection

The 1000 Genomes Project

From One Genome to 1000 and Beyond in 25 years

We celebrate the 25^th anniversary of the launch of the Human Genome Project (HGP) with recognition for human genomics resources, from one genome to over one thousand genomes and beyond.

The 1000 Genomes Project began in 2007 with the goal of developing a comprehensive resource of human genetic variation across worldwide populations. Eight years later, we publish in this issue the final phase reports from this project, representing the most comprehensive assessment of human genetic variation across global populations to date. The already established datasets have, since their launch, provided a foundational open resource that has enabled a wealth of robust genetic associations to disease as well as many key insights into population history and evolution.

The final phase 1000 Genomes Project publications represent not only the completion of this project, but also the culmination of a series of international collaborations stemming from the HGP, including the International HapMap Project, all focused on establishing open reference catalogues of genetic variation as a resource to the community.

We are pleased to present this Nature Collection of all the primary publications and related news and commentary on the International HapMap and 1000 Genomes Projects.

- Orli Bahcall, Senior Editor, Nature

Podcast

Podcast on completion of 1000 Genomes Project with Gil McVean and NHGRI Director Eric Green. What has been achieved in the twenty-five years since the start of the Human Genome Project.

Additional resources:

1000 Genomes Project website

The International HapMap Project website

Nature: The Human Genome issue. A historic issue published on 15 February 2001 reporting the draft sequence.

Nature: The Human Genome at Ten. Special issue 10 years later reflecting on what we have learnt about the genome itself and about us - our biology, evolution and the genetic basis of human disease.

Nature: The Human Genome Collection. Collection on publications of the DNA sequence of the human genome as a freely available resource.

Additional publications from the 1000 Genomes Project Consortium:

Willems T, Gymrek M, Highnam G, 1000 Genomes Project Consortium, Mittelman D, Erlich Y. The landscape of human STR variation. Genome Res. 2014. 24: 1894-1904.
Xue Y, Chen Y, Ayub Q, Huang N, Ball EV, Mort M, Phillips AD, Shaw K, Stenson PD, Cooper DN, Tyler-Smith C, 1000 Genomes Project Consortium. Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing. Am J Hum Genet 2012, 91(6):1022-1032.
Montgomery SB, Goode DL, Kvikstad E, Albers CA, Zhang ZD, Mu XJ, Ananda G, Howie B, Karczewski KJ, Smith KS, Anaya V, Richardson R, Davis J, 1000 Genomes Project Consortium, MacArthur DG, Sidow A, Duret L, Gerstein M, Makova KD, Marchini J, McVean G, Lunter G. The origin, evolution, and functional impact of short insertion-deletion variants identified in 179 human genomes. Genome Res. 2013. 23: 749-761.
MacArthur DG, Balasubramanian S, Frankish A, Huang N, Morris J, Walter K, Jostins L, Habegger L, Pickrell JK, Montgomery SB, Albers CA, Zhang ZD, Conrad DF, Lunter G, Zheng H, Ayub Q, DePristo MA, Banks E, Hu M, Handsaker RE, ... A systematic survey of loss-of-function variants in human protein-coding genes. Science 2012, 335(6070):823-828.
Colonna V, Ayub Q, Chen Y, Pagani L, Luisi P, Pybus M, Garrison E, Xue Y, Tyler-Smith C, 1000 Genomes Project Consortium, Abecasis GR, Auton A, Brooks LD, DePristo MA, Durbin RM, Handsaker RE, Kang HM, Marth GT, McVean GA. Human genomic regions with exceptionally high levels of population differentiation identified from 911 whole-genome sequences. Genome Biol 2014, 15(6):r88.

The 1000 Genomes Project

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