Evaluation of phenotype-driven gene prioritization methods for Mendelian diseases.

Jacobsen, Julius O B; Kelly, Catherine; Cipriani, Valentina; Robinson, Peter N; Smedley, Damian

Jacobsen, Julius O B; Kelly, Catherine; Cipriani, Valentina; Robinson, Peter N; Smedley, Damian.

Afiliação

Jacobsen JOB; William Harvey Research Institute, Charterhouse Square, Barts and the London School of Medicine and Dentistry Queen, Queen Mary University of London, EC1M 6BQ London, UK.
Kelly C; William Harvey Research Institute, Charterhouse Square, Barts and the London School of Medicine and Dentistry Queen, Queen Mary University of London, EC1M 6BQ London, UK.
Cipriani V; William Harvey Research Institute, Charterhouse Square, Barts and the London School of Medicine and Dentistry Queen, Queen Mary University of London, EC1M 6BQ London, UK.
Robinson PN; The Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington, CT 06032, USA.
Smedley D; William Harvey Research Institute, Charterhouse Square, Barts and the London School of Medicine and Dentistry Queen, Queen Mary University of London, EC1M 6BQ London, UK.

Brief Bioinform ; 23(5)2022 09 20.

Article em En | MEDLINE | ID: mdl-35595299

Assuntos

Doenças Genéticas Inatas; Fenótipo; Biologia Computacional; Humanos

Palavras-chave

phenotype; rare disease; variant prioritization

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Doenças Genéticas Inatas Limite: Humans Idioma: En Revista: Brief Bioinform Assunto da revista: BIOLOGIA / INFORMATICA MEDICA Ano de publicação: 2022 Tipo de documento: Article

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google