DeepPVP: phenotype-based prioritization of causative variants using deep learning.

Boudellioua, Imane; Kulmanov, Maxat; Schofield, Paul N; Gkoutos, Georgios V; Hoehndorf, Robert

Boudellioua, Imane; Kulmanov, Maxat; Schofield, Paul N; Gkoutos, Georgios V; Hoehndorf, Robert.

Afiliación

Boudellioua I; Computational Bioscience Research Center (CBRC), King Abdullah University of Science and Technology, 4700 KAUST, Thuwal, 23955-6900, Kingdom of Saudi Arabia.
Kulmanov M; Computer, Electrical and Mathematical Sciences & Engineering Division (CEMSE), King Abdullah University of Science and Technology, 4700 KAUST, PO Box 2882, Thuwal, 23955-6900, Kingdom of Saudi Arabia.
Schofield PN; Computational Bioscience Research Center (CBRC), King Abdullah University of Science and Technology, 4700 KAUST, Thuwal, 23955-6900, Kingdom of Saudi Arabia.
Gkoutos GV; Computer, Electrical and Mathematical Sciences & Engineering Division (CEMSE), King Abdullah University of Science and Technology, 4700 KAUST, PO Box 2882, Thuwal, 23955-6900, Kingdom of Saudi Arabia.
Hoehndorf R; Department of Physiology, Development & Neuroscience, University of Cambridge, Downing Street, Cambridge, CB2 3EG, UK.

BMC Bioinformatics ; 20(1): 65, 2019 Feb 06.

Article en En | MEDLINE | ID: mdl-30727941

Asunto(s)

Aprendizaje Profundo; Variación Genética; Programas Informáticos; Exoma/genética; Frecuencia de los Genes/genética; Humanos; Redes Neurales de la Computación; Fenotipo; Secuenciación del Exoma

Palabras clave

Machine learning; Ontology; Phenotype; Variant prioritization

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Variación Genética / Programas Informáticos / Aprendizaje Profundo Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: BMC Bioinformatics Asunto de la revista: INFORMATICA MEDICA Año: 2019 Tipo del documento: Article

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