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Researchers Expand and Upgrade the 1000 Genomes Project Resource

By September 8, 2022No Comments

Seven years ago, the 1000 Genomes Project (1kGP) published an open-access resource based primarily on low-coverage whole-genome sequencing (WGS) data of 2,504 individuals from 26 populations representing five continental regions of the world, making it the first large-scale WGS effort to deliver a catalog of human genetic variation.

Now, researchers at the New York Genome Center, in collaboration with groups at the Massachusetts General Hospital, Yale University, and Human Genome Structural Variation Consortium (HGSVC), have expanded the 1kGP resource to include nearly all parent-child trios in the collection, alongside the original samples, and sequenced them at high coverage using Illumina NovaSeq instruments. The study, published inĀ Cell, presents comprehensive analyses of the high-coverage WGS data on the expanded 1kGP cohort which now consists of 3,202 samples, including 602 trios.