Extracting and calibrating evidence of variant pathogenicity from population biobank data
Vineel Bhat, Tian Yu, Lara Brown, Vikas Rao Pejaver, Matthew S. Lebo, Steven M. Harrison, Christopher A. Cassa
The paper uses population biobank data to identify and calibrate evidence of variant pathogenicity for 41 genes, finding that 2.6% of participants have rare variants with moderate or stronger evidence of pathogenicity.
The American Journal of Human Genetics · Jul 15, 2025Peer-reviewedGenetic & Genomic Medicine