Detection of Pathogenic Variants With Germline Genetic Testing Using Deep Learning vs Standard Methods in Patients With Prostate Cancer and Melanoma

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, SET...

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Опубликовано в: :JAMA
Главные авторы: 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.
Формат: Artigo
Язык:Inglês
Опубликовано: American Medical Association 2020
Предметы:
Original Investigation
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC7672519/
https://ncbi.nlm.nih.gov/pubmed/33201204
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/jama.2020.20457
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