Leveraging cancer mutation data to predict the pathogenicity of germline missense variants
Bushra Haque, David Cheerie, Amy Pan, Meredith Curtis, Thomas Nalpathamkalam, Jimmy Nguyen, Celine Salhab, Bhooma Thiruvahindrapura, Jade Zhang, Madeline Couse, Taila Hartley, Michelle M. Morrow, Emily M. Price, Susan Walker, David M. Malkin, , Gregory Costain
This study uses cancer mutation data and machine learning to predict the pathogenicity of germline missense variants, showing strong performance in identifying disease-causing variants.
medRxiv · Mar 11, 2024 · PreprintGenetic & Genomic Medicine