Article
Detection of Pathogenic Variants With Germline Genetic Testing Using Deep Learning vs Standard Methods in Patients With Prostate Cancer and Melanoma.
JAMA - 17 Nov 2020
AlDubayan Saud H, Conway Jake R, Camp Sabrina Y, Witkowski Leora, Kofman Eric, Reardon Brendan, Han Seunghun, Moore Nicholas, Elmarakeby Haitham, Salari Keyan, Choudhry Hani, Al-Rubaish Abdullah M, Al-Sulaiman Abdulsalam A, Al-Ali Amein K, Taylor-Weiner Amaro, Van Allen Eliezer M
Abstract excerpt
Importance: Less than 10% of patients with cancer have detectable pathogenic germline alterations, which may be partially due to incomplete pathogenic variant detection. Objective: To evaluate if deep learning approaches identify more germline pathogenic variants in patients with cancer. Design, Setting, and Participants: A cross-sectional study of a standard germline detection method and a deep learning method...
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