1000 Genomes Project reaches its final
phase (N&V)
Embargo

London: Wednesday 30 September 2015 18:00 (BST)

New York: Wednesday 30 September 2015 13:00 (EDT)

Tokyo: Thursday 01 October 2015 02:00 (JST)

Sydney: Thursday 01 October 2015 03:00 (AEST)
The final set of findings from the 1000 Genomes Project that sought to describe and catalogue
human genetic variation across populations are presented in two separate papers published in
this week’s Nature. The studies provide a comprehensive view into genetic variation in human
populations across five continents.
In the report of the third phase of 1000 Genomes Project, Adam Auton, Gonçalo Abecasis and
colleagues describe the completion and final phase of this project, which was set up in 2008 and
which used a combination of genome and exome sequencing as well as genotyping to identify
genetic variants in 2,504 unrelated individuals from 26 populations across Asia, Europe, Africa
and the Americas. The authors find that rare variants are often restricted to closely related
populations, while common variants are shared across populations. “As expected, the 1000
Genomes Project consortium find that most of the world’s variation between humans occurs in
sub-Saharan populations,” explain Ewan Birney and Nicole Soranzo in an accompanying News &
Views article.
In an accompanying publication from the Structural Variation group of the 1000 Genomes
Project, Jan Korbel, Evan Eichler and colleagues analyse eight major structural variation classes
(including deletions, insertions, duplications and inversions) in the same set of individuals. They
also identify clusters of structural variants spanning genes implicated as potential risk factors for
diseases, including neurodevelopmental disorders, as well as genes important for the
maintenance of pregnancy.
The 1000 Genomes Project datasets and analyses have been openly released and are freely
available, thereby acting as a resource for future disease and population genetics studies.
Article and author details
1. A global reference for human genetic variation
Corresponding Authors
Adam Auton
Albert Einstein College of Medicine, Bronx, New York, United States
Email: adam.auton@gmail.com, Tel: +1 718 678 1150
Gonçalo Abecasis
University of Michigan, Ann Arbor, Michigan, United States
Email: goncalo@umich.edu, Tel: +1 734 763 4901
DOI
10.1038/nature15393
Online paper*
http://nature.com/articles/doi:10.1038/nature15393
2. An integrated map of structural variation in 2,504 human genomes
Corresponding Author
Jan Korbel
European Molecular Biology Laboratory, Heidelberg, Germany
Email: korbel@embl.de, Tel: +49 6221 3878822
N&V author
Ewan Birney
European Bioinformatics Institute, Cambridge, UK
Tel: +44 1223 494 420; E-mail: birney@ebi.ac.uk
DOI
10.1038/nature15394
Online paper*
http://nature.com/articles/doi:10.1038/nature15394
* Please link to the article in online versions of your report (the URL will go live after the embargo ends).
Geographical listings of authors
Canada, China, Denmark, Germany, Japan, Netherlands, Saudi Arabia, South Korea, Turkey, United
Kingdom & United States