An integrated map of genetic variation from 1,092 human genomes

The 1000 Genomes Project Consortium, Coin, L. J. M. and Li, Yingrui (2012) An integrated map of genetic variation from 1,092 human genomes. Nature, 491 7422: 56-65. doi:10.1038/nature11632

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Author The 1000 Genomes Project Consortium
Coin, L. J. M.
Li, Yingrui
Title An integrated map of genetic variation from 1,092 human genomes
Journal name Nature   Check publisher's open access policy
ISSN 0028-0836
Publication date 2012-11-01
Year available 2012
Sub-type Article (original research)
DOI 10.1038/nature11632
Open Access Status Not yet assessed
Volume 491
Issue 7422
Start page 56
End page 65
Total pages 10
Place of publication London, United Kingdom
Publisher Nature
Language eng
Subject 1000 General
Abstract By characterizing the geographic and functional spectrum of human genetic variation, the 1000 Genomes Project aims to build a resource to help to understand the genetic contribution to disease. Here we describe the genomes of 1,092 individuals from 14 populations, constructed using a combination of low-coverage whole-genome and exome sequencing. By developing methods to integrate information across several algorithms and diverse data sources, we provide a validated haplotype map of 38 million single nucleotide polymorphisms, 1.4 million short insertions and deletions, and more than 14,000 larger deletions. We show that individuals from different populations carry different profiles of rare and common variants, and that low-frequency variants show substantial geographic differentiation, which is further increased by the action of purifying selection. We show that evolutionary conservation and coding consequence are key determinants of the strength of purifying selection, that rare-variant load varies substantially across biological pathways, and that each individual contains hundreds of rare non-coding variants at conserved sites, such as motif-disrupting changes in transcription-factor-binding sites. This resource, which captures up to 98% of accessible single nucleotide polymorphisms at a frequency of 1% in related populations, enables analysis of common and low-frequency variants in individuals from diverse, including admixed, populations.
Keyword Multidisciplinary Sciences
Science & Technology - Other Topics
Q-Index Code C1
Q-Index Status Provisional Code
Grant ID WT098051
KO 4037/1-1
2006BP-A 10144
Institutional Status Non-UQ

Document type: Journal Article
Sub-type: Article (original research)
Collection: Institute for Molecular Bioscience - Publications
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