Genetic variant pathogenicity prediction trained using disease-specific clinical sequencing data sets.

Evans, Perry; Wu, Chao; Lindy, Amanda; McKnight, Dianalee A; Lebo, Matthew; Sarmady, Mahdi; Abou Tayoun, Ahmad N

Evans, Perry; Wu, Chao; Lindy, Amanda; McKnight, Dianalee A; Lebo, Matthew; Sarmady, Mahdi; Abou Tayoun, Ahmad N.

Afiliación

Evans P; Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.
Wu C; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.
Lindy A; GeneDx, Gaithersburg, Maryland 20877, USA.
McKnight DA; GeneDx, Gaithersburg, Maryland 20877, USA.
Lebo M; Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, Massachusetts 02139, USA.
Sarmady M; Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA.
Abou Tayoun AN; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.

Genome Res ; 29(7): 1144-1151, 2019 07.

Article en En | MEDLINE | ID: mdl-31235655

Asunto(s)

Cardiomiopatías/genética; Conjuntos de Datos como Asunto; Epilepsia/genética; Variación Genética; Proteínas ras/genética; Humanos; Mutación Missense

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Variación Genética / Proteínas ras / Epilepsia / Conjuntos de Datos como Asunto / Cardiomiopatías Tipo de estudio: Evaluation_studies / Prognostic_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: Genome Res Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA Año: 2019 Tipo del documento: Article País de afiliación: Estados Unidos

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