Evaluation of Bayesian Point-Based System on the Variant Classification of Hereditary Cancer Predisposition Genes
Mohammad K. Eldomery, Jamie L. Maciaszek, Taylor Cain, Victor Pastor Loyola, Suraj Sarvode Mothi, David A. Wheeler, Li Tang, Lu Wang, Jeffery M. Klco, Patrick R. Blackburn
The paper evaluates a Bayesian point-based system for variant classification in hereditary cancer genes, finding it reduces variants of uncertain significance compared to ACMG/AMP 2015 guidelines.
Genetics in Medicine · Sep 19, 2024Peer-reviewedGenetic & Genomic Medicine