Achieving robust somatic mutation detection with deep learning models derived from reference data sets of a cancer sample.

Sahraeian, Sayed Mohammad Ebrahim; Fang, Li Tai; Karagiannis, Konstantinos; Moos, Malcolm; Smith, Sean; Santana-Quintero, Luis; Xiao, Chunlin; Colgan, Michael; Hong, Huixiao; Mohiyuddin, Marghoob; Xiao, Wenming

Sahraeian, Sayed Mohammad Ebrahim; Fang, Li Tai; Karagiannis, Konstantinos; Moos, Malcolm; Smith, Sean; Santana-Quintero, Luis; Xiao, Chunlin; Colgan, Michael; Hong, Huixiao; Mohiyuddin, Marghoob; Xiao, Wenming.

Afiliação

Sahraeian SME; Roche Sequencing Solutions, Santa Clara, CA, 95050, USA.
Fang LT; Roche Sequencing Solutions, Santa Clara, CA, 95050, USA.
Karagiannis K; The Center for Biologics Evaluation and Research, U.S. Food and Drug Administration, 10903 New Hampshire Avenue, Silver Spring, MD, 20993, USA.
Moos M; The Center for Biologics Evaluation and Research, U.S. Food and Drug Administration, 10903 New Hampshire Avenue, Silver Spring, MD, 20993, USA.
Smith S; The Center for Biologics Evaluation and Research, U.S. Food and Drug Administration, 10903 New Hampshire Avenue, Silver Spring, MD, 20993, USA.
Santana-Quintero L; The Center for Biologics Evaluation and Research, U.S. Food and Drug Administration, 10903 New Hampshire Avenue, Silver Spring, MD, 20993, USA.
Xiao C; National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD, USA.
Colgan M; Office of Oncological Diseases, Office of New Drug, Center for Drug Evaluation and Research, U.S. Food and Drug Administration, 10903 New Hampshire Avenue, Silver Spring, MD, 20993, USA.
Hong H; Bioinformatics branch, Division of Bioinformatics and Biostatistics, National Center for Toxicological Research, U.S. Food and Drug Administration, 3900 NCTR Road, Jefferson, AR, 72079, USA.
Mohiyuddin M; Roche Sequencing Solutions, Santa Clara, CA, 95050, USA.
Xiao W; Office of Oncological Diseases, Office of New Drug, Center for Drug Evaluation and Research, U.S. Food and Drug Administration, 10903 New Hampshire Avenue, Silver Spring, MD, 20993, USA. wenming.xiao@fda.hhs.gov.

Genome Biol ; 23(1): 12, 2022 01 07.

Article em En | MEDLINE | ID: mdl-34996510

Assuntos

Aprendizado Profundo; Neoplasias; Genômica; Humanos; Mutação; Neoplasias/genética; Redes Neurais de Computação

Palavras-chave

Convolutional neural networks; Deep learning; Model training strategies; Somatic mutation; Well-characterized somatic reference samples

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Aprendizado Profundo / Neoplasias Tipo de estudo: Diagnostic_studies / Guideline Limite: Humans Idioma: En Revista: Genome Biol Assunto da revista: BIOLOGIA MOLECULAR / GENETICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Estados Unidos

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