Article
Targeting de novo loss-of-function variants in constrained disease genes improves diagnostic rates in the 100,000 Genomes Project.
Human genetics - 1 Mar 2023
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
Abstract excerpt
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 the panel(s) applied. We propose a complementary method to rapidly identify pathogenic variants, including those...
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