Article

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

2022-05-24

Abstract excerpt

Whole genome sequencing was first offered clinically in the UK through the 100,000 Genomes Project (100KGP); however, data analysis was time and resource intensive with 3 million variants found per patient. Consequently, analysis was restricted to predefined gene panels associated with the patient’s phenotype. However, panels rely on clearly characterised phenotypes and risk missing diagnostic variants outside of...

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Literature Corpus work: 207d0acc-b588-53a1-92c4-cc12215ada7b
DOI: 10.1101/2022.05.18.22275260

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