A global reference for human genetic variation

The 1000 Genomes Project Consortium and Coin, Lachlan (2015) A global reference for human genetic variation. Nature, 526 7571: 68-74. doi:10.1038/nature15393

Author The 1000 Genomes Project Consortium
Coin, Lachlan
Title A global reference for human genetic variation
Journal name Nature   Check publisher's open access policy
ISSN 1476-4687
Publication date 2015-09-30
Sub-type Critical review of research, literature review, critical commentary
DOI 10.1038/nature15393
Open Access Status DOI
Volume 526
Issue 7571
Start page 68
End page 74
Total pages 7
Place of publication London, United Kingdom
Publisher Nature Publishing Group
Collection year 2016
Language eng
Abstract 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.
Keyword Genomics
Genetic variation
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Critical review of research, literature review, critical commentary
Collections: Official 2016 Collection
Institute for Molecular Bioscience - Publications
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Citation counts: TR Web of Science Citation Count  Cited 148 times in Thomson Reuters Web of Science Article | Citations
Scopus Citation Count Cited 174 times in Scopus Article | Citations
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