A Global Reference for Human Genetic Variation

The project 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. The project 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 greater than 99 percent of SNP variants with a frequency greater than 1 percent for a variety of ancestries. It describes the distribution of genetic variation across the global sample, and discusses the implications for common disease studies. (Publisher abstract modified)