Targeting de novo loss-of-function variants in constrained disease genes improves diagnostic rates in the 100,000 Genomes Project

BACKGROUND: Genome sequencing was first offered clinically in the UK through the 100,000 Genomes Project (100KGP). Analysis was restricted to predefined gene panels associated with the patient’s phenotype. However, panels rely on clearly characterised phenotypes and risk missing diagnoses outside of...

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Detalles Bibliográficos
Autores principales: Seaby, Eleanor G., Thomas, N. Simon, Webb, Amy, Brittain, Helen, Taylor Tavares, Ana Lisa, Baralle, Diana, Rehm, Heidi L., O’Donnell-Luria, Anne, Ennis, Sarah
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2022
Materias:
Original Investigation
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9950176/
https://www.ncbi.nlm.nih.gov/pubmed/36477409
http://dx.doi.org/10.1007/s00439-022-02509-x

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