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Targeting de novo loss-of-function variants in constrained disease genes improves diagnostic rates in the 100,000 Genomes Project.
Eleanor G Seaby, N Simon Thomas, Amy Webb, Helen Brittain, Ana Lisa Taylor Tavares, Genomics England Consortium, Diana Baralle, Heidi L Rehm, Anne O'Donnell-Luria, Sarah Ennis
OAI: oai:www.repository.cam.ac.uk:1810/346808 • DOI: 10.17863/CAM.94222