Assessing performance of pathogenicity predictors using clinically relevant variant datasets.

Gunning, Adam C; Fryer, Verity; Fasham, James; Crosby, Andrew H; Ellard, Sian; Baple, Emma L; Wright, Caroline F

Gunning, Adam C; Fryer, Verity; Fasham, James; Crosby, Andrew H; Ellard, Sian; Baple, Emma L; Wright, Caroline F.

Afiliação

Gunning AC; College of Medicine and Health, University of Exeter Medical School Institute of Biomedical and Clinical Science, Exeter, Devon, UK.
Fryer V; Exeter Genomics Laboratory, Royal Devon & Exeter NHS Foundation Trust, Exeter, UK.
Fasham J; Exeter Genomics Laboratory, Royal Devon & Exeter NHS Foundation Trust, Exeter, UK.
Crosby AH; College of Medicine and Health, University of Exeter Medical School Institute of Biomedical and Clinical Science, Exeter, Devon, UK.
Ellard S; College of Medicine and Health, University of Exeter Medical School Institute of Biomedical and Clinical Science, Exeter, Devon, UK.
Baple EL; Exeter Genomics Laboratory, Royal Devon & Exeter NHS Foundation Trust, Exeter, UK.
Wright CF; College of Medicine and Health, University of Exeter Medical School Institute of Biomedical and Clinical Science, Exeter, Devon, UK.

J Med Genet ; 58(8): 547-555, 2021 08.

Article em En | MEDLINE | ID: mdl-32843488

Assuntos

Biologia Computacional/métodos; Variação Genética/genética; Genômica/métodos; Exoma/genética; Humanos; Curva ROC

Palavras-chave

genetic testing; genetic variation; genetics; genomics; human genetics

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética / Biologia Computacional / Genômica Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Revista: J Med Genet Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Reino Unido

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