Lost in translation: the pitfalls of Ensembl gene annotations between human genome assemblies and their impact on diagnostics.

Abdallah, Mohammed O E; Koko, Mahmoud; Ramesar, Raj

Abdallah, Mohammed O E; Koko, Mahmoud; Ramesar, Raj.

Afiliación

Abdallah MOE; Division of Human Genetics, Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, BC, Canada.
Koko M; MRC Genomic and Precision Medicine Research Unit, Division of Human Genetics, Department of Pathology, Institute of Infectious Diseases and Molecular Medicine, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.
Ramesar R; Department of Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.

Expert Rev Mol Diagn ; 23(8): 723-727, 2023.

Article en En | MEDLINE | ID: mdl-37449513

Asunto(s)

Genoma Humano; Genómica; Humanos; Anotación de Secuencia Molecular

Palabras clave

Ensembl; Grch37; Grch38; Next-generation sequencing; clinical diagnostics; gene annotation

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Genoma Humano / Genómica Tipo de estudio: Diagnostic_studies / Guideline Límite: Humans Idioma: En Revista: Expert Rev Mol Diagn Asunto de la revista: BIOLOGIA MOLECULAR Año: 2023 Tipo del documento: Article País de afiliación: Canadá

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