Phenotype-aware prioritisation of rare Mendelian disease variants.

Kelly, Catherine; Szabo, Anita; Pontikos, Nikolas; Arno, Gavin; Robinson, Peter N; Jacobsen, Jules O B; Smedley, Damian; Cipriani, Valentina

Kelly, Catherine; Szabo, Anita; Pontikos, Nikolas; Arno, Gavin; Robinson, Peter N; Jacobsen, Jules O B; Smedley, Damian; Cipriani, Valentina.

Afiliação

Kelly C; William Harvey Research Institute, Queen Mary University of London, London, EC1M 6BQ, UK.
Szabo A; UCL Institute of Ophthalmology, University College London, London, EC1V 9EL, UK.
Pontikos N; UCL Institute of Ophthalmology, University College London, London, EC1V 9EL, UK.
Arno G; UCL Institute of Ophthalmology, University College London, London, EC1V 9EL, UK.
Robinson PN; The Jackson Laboratory for Genomic Medicine, Farmington, CT 06032, USA.
Jacobsen JOB; William Harvey Research Institute, Queen Mary University of London, London, EC1M 6BQ, UK.
Smedley D; William Harvey Research Institute, Queen Mary University of London, London, EC1M 6BQ, UK. Electronic address: d.smedley@qmul.ac.uk.
Cipriani V; William Harvey Research Institute, Queen Mary University of London, London, EC1M 6BQ, UK; UCL Institute of Ophthalmology, University College London, London, EC1V 9EL, UK; Moorfields Eye Hospital NHS Foundation Trust, London, EC1V 2PD, UK; UCL Genetics Institute, University College London, London, WC

Trends Genet ; 38(12): 1271-1283, 2022 12.

Article em En | MEDLINE | ID: mdl-35934592

Assuntos

Exoma; Doenças Raras; Humanos; Fenótipo; Sequenciamento do Exoma; Doenças Raras/diagnóstico; Doenças Raras/genética

Palavras-chave

molecular diagnosis; phenotype; rare disease; variant prioritisation; variant prioritization

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças Raras / Exoma Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Revista: Trends Genet Assunto da revista: GENETICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Reino Unido

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