A global reference for human genetic variation.
- Author(s): 1000 Genomes Project Consortium;
- Auton, Adam;
- Brooks, Lisa D;
- Durbin, Richard M;
- Garrison, Erik P;
- Kang, Hyun Min;
- Korbel, Jan O;
- Marchini, Jonathan L;
- McCarthy, Shane;
- McVean, Gil A;
- Abecasis, Gonçalo R
- et al.
Published Web Location
https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/26432245/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.
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