Leveraging cancer mutation data to inform the pathogenicity classification of germline missense variants.

Leveraging cancer mutation data to inform the pathogenicity classification of germline missense variants.

Innovative and easy-to-implement strategies are needed to improve the pathogenicity assessment of rare germline missense variants. Somatic cancer driver mutations identified through large-scale tumor sequencing studies often impact genes that are also associated with rare Mendelian disorders. The us...

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Bibliographic Details
Main Authors: Bushra Haque, David Cheerie, Amy Pan, Meredith Curtis, Thomas Nalpathamkalam, Jimmy Nguyen, Celine Salhab, Bhooma Thiruvahindrapuram, Jade Zhang, Madeline Couse, Taila Hartley, Michelle M Morrow, E Magda Price, Susan Walker, David Malkin, Frederick P Roth, Gregory Costain
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2025-01-01
Series:PLoS Genetics
Online Access:https://doi.org/10.1371/journal.pgen.1011540
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