1KG Phase3

[PMID: 26432245] [Nature]

A global reference for human genetic variation

2,504 individuals from 26 populations, low-coverage WGS + deep WES + dense microarray genotyping. Over 88 million variants (84.7 million SNPs, 3.6 million indels, and 60,000 SVs).

[PMID: 26432246] [Nature]

An integrated map of structural variation in 2,504 human genomes

“structural variants are enriched on haplotypes identified by genome-wide association studies and exhibit enrichment for expression quantitative trait loci.”


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