A structural variation reference for medical and population genetics

A structural variation reference for medical and population genetics

Nature, Published online: 27 May 2020; doi:10.1038/s41586-020-2287-8

A large empirical assessment of sequence-resolved structural variants from 14,891 genomes across diverse global populations in the Genome Aggregation Database (gnomAD) provides a reference map for disease-association studies, population genetics, and diagnostic screening.
Source: Nature

Leave a Reply