A global reference for human genetic variation.

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.

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A global reference for human genetic variation.

Citations

Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes

A global overview of pleiotropy and genetic architecture in complex traits

PhenoScanner V2: an expanded tool for searching human genotype-phenotype associations

Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly

Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder

References

Basic Local Alignment Search Tool

The Sequence Alignment/Map format and SAMtools

BEDTools: a flexible suite of utilities for comparing genomic features

An integrated encyclopedia of DNA elements in the human genome

The variant call format and VCFtools

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