A comparative medical genomics approach may facilitate the interpretation of rare missense variation
Bushra Haque, George F. Guirguis, Meredith Curtis, Hera Mohsin, Susan Walker, Michelle M. Morrow, Gregory Costain
The paper compares pathogenicity features of missense variants in non-human livestock to human genomic data, finding higher odds of pathogenic classification in cross-species variants.
Journal of Medical Genetics · Mar 20, 2024Peer-reviewedGenetic & Genomic Medicine