Title

A global reference for human genetic variation

Authors

Adam Auton, Albert Einstein College of Medicine of Yeshiva University
Gonçalo R. Abecasis, University of Michigan, Ann Arbor
David M. Altshuler, Vertex Pharmaceuticals, Inc.
Richard M. Durbin, Wellcome Sanger Institute
David R. Bentley, Illumina United Kingdom
Aravinda Chakravarti, Johns Hopkins School of Medicine
Andrew G. Clark, Cornell University
Peter Donnelly, The Wellcome Centre for Human Genetics
Evan E. Eichler, University of Washington School of Medicine
Paul Flicek, European Bioinformatics Institute
Stacey B. Gabriel, Broad Institute
Richard A. Gibbs, Baylor College of Medicine
Eric D. Green, National Human Genome Research Institute (NHGRI)
Matthew E. Hurles, Wellcome Sanger Institute
Bartha M. Knoppers, McGill University
Jan O. Korbel, European Bioinformatics Institute
Eric S. Lander, Broad Institute
Charles Lee, Jackson Laboratory
Hans Lehrach, Max Planck Institute for Molecular Genetics
Elaine R. Mardis, Washington University School of Medicine in St. Louis
Gabor T. Marth, University of Utah School of Medicine
Gil A. McVean, The Wellcome Centre for Human Genetics
Deborah A. Nickerson, University of Washington School of Medicine
Jeanette P. Schmidt, Thermo Fisher Scientific Inc.
Stephen T. Sherry, National Center for Biotechnology Information (NCBI)
Jun Wang, BGI-Shenzhen
Richard K. Wilson, Washington University School of Medicine in St. Louis
Eric Boerwinkle, Baylor College of Medicine
Harsha Doddapaneni, Baylor College of Medicine
Yi Han, Baylor College of Medicine
Viktoriya Korchina, Baylor College of Medicine
Christie Kovar, Baylor College of Medicine
Sandra Lee, Baylor College of Medicine
Donna Muzny, Baylor College of Medicine

Document Type

Article

Publication Date

9-30-2015

Abstract

© 2015 Macmillan Publishers Limited. All rights reserved. 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.

Publication Source (Journal or Book title)

Nature

First Page

68

Last Page

74

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