A structural variation reference for medical and population genetics.

ABSTRACT: Structural variants (SVs) rearrange large segments of DNA¹ and can have profound consequences in evolution and human disease^2,3. As national biobanks, disease-association studies, and clinical genetic testing have grown increasingly reliant on genome sequencing, population references such as the Genome Aggregation Database (gnomAD)⁴ have become integral in the interpretation of single-nucleotide variants (SNVs)⁵. However, there are no reference maps of SVs from high-coverage genome sequencing comparable to those for SNVs. Here we present a reference of sequence-resolved SVs constructed from 14,891 genomes across diverse global populations (54% non-European) in gnomAD. We discovered a rich and complex landscape of 433,371 SVs, from which we estima

SUBMITTER: Collins RL 

PROVIDER: S-EPMC7334194 | biostudies-literature | 2020 May

REPOSITORIES: biostudies-literature