A structural variation reference for medical and population genetics

The Genome Aggregation Database (gnomAD)
Article | 27 May 2020 | Open Access

 

Article | 27 May 2020 | Open Access
A structural variation reference for medical and population genetics
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.
Ryan L. Collins, Harrison Brand[…] & Michael E. Talkowski