A gene pathogenicity tool 'GenePy' identifies missed biallelic diagnoses in the 100,000 Genomes Project.

Seaby, Eleanor G; Leggatt, Gary; Cheng, Guo; Thomas, N Simon; Ashton, James J; Stafford, Imogen; Baralle, Diana; Rehm, Heidi L; O'Donnell-Luria, Anne; Ennis, Sarah

Seaby, Eleanor G; Leggatt, Gary; Cheng, Guo; Thomas, N Simon; Ashton, James J; Stafford, Imogen; Baralle, Diana; Rehm, Heidi L; O'Donnell-Luria, Anne; Ennis, Sarah.

Afiliación

Seaby EG; Human Development and Health, Faculty of Medicine, University Hospital Southampton, Southampton, Hampshire, SO16 6YD, UK.
Leggatt G; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
Cheng G; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA.
Thomas NS; Paediatric Infectious Diseases, Imperial College London, London, W2 1NY, UK.
Ashton JJ; Human Development and Health, Faculty of Medicine, University Hospital Southampton, Southampton, Hampshire, SO16 6YD, UK.
Stafford I; Human Development and Health, Faculty of Medicine, University Hospital Southampton, Southampton, Hampshire, SO16 6YD, UK.
Baralle D; Wessex Regional Genomics Laboratory, Salisbury NHS Foundation Trust, Salisbury, SP2 8BJ, UK.
Rehm HL; Human Development and Health, Faculty of Medicine, University Hospital Southampton, Southampton, Hampshire, SO16 6YD, UK.
O'Donnell-Luria A; University of Sussex, Brighton BN1 9RH, UK.

medRxiv ; 2023 Mar 30.

Article en En | MEDLINE | ID: mdl-37034701

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Tipo de estudio: Diagnostic_studies / Prognostic_studies Idioma: En Revista: MedRxiv Año: 2023 Tipo del documento: Article País de afiliación: Reino Unido

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