A global reference for human genetic variation

Consortium, 1000 Genomes Project (2015) A global reference for human genetic variation. Nature, 526 (7571). pp. 68-74. ISSN 1476-4687 (Electronic)0028-0836 (Linking)

URL: http://www.ncbi.nlm.nih.gov/pubmed/26432245
DOI: 10.1038/nature15393

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.

Item Type: Paper
Subjects: bioinformatics
bioinformatics > genomics and proteomics > genetics & nucleic acid processing
bioinformatics > genomics and proteomics
Investigative techniques and equipment > assays > next generation sequencing
CSHL Authors:
Communities: CSHL labs > McCombie lab
CSHL labs > Yoon lab
Depositing User: Matt Covey
Date Deposited: 06 Oct 2015 16:22
Last Modified: 06 Oct 2015 16:22
Related URLs:
URI: http://repository.cshl.edu/id/eprint/31908

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