Targeting de novo loss-of-function variants in constrained disease genes improves diagnostic rates in the 100,000 Genomes Project
Eleanor G. Seaby(University of Southampton), Sophie Smith(Genomics England), Tim Hubbard(King's College London), Anna C. Need(University of Pavia), J. Pullinger, Federico Minneci(University College London), Nirupa Murugaesu(University of Pavia), Ana Lisa Taylor Tavares(University of Leeds), Melis Kayikci(Jackson Laboratory), L. Lahnstein(Massachusetts General Hospital), Richard H. Scott(Genomics England), Ivone Leong(Queen Mary University of London), Loukas Moutsianas(Genomics England), K. Sawant(Genomics England), Athanasios Kousathanas(Jackson Laboratory), Dalia Kasperavičiūtė(University of Leeds), Adam Giess(Jackson Laboratory), Marta Bleda(University of Cambridge), Afshan Siddiq, Peter O’Donovan(Genomics England), Prabhu Arumugam(Jackson Laboratory), Tom Fowler(UK Health Security Agency), F. J. Lopez(Ministry of Agriculture and Forestry), Helen Brittain(Great Ormond Street Hospital), S. E. A. Leigh(Queen Mary University of London), Angela Hamblin(Genomics England), T. Rahim(University of Pavia), Christopher A. Odhams(Genomics England), G. C. Chan(Jackson Laboratory), A. Sieghart, F. Maleady-Crowe(Genomics England), Meriel McEntagart(St George's, University of London), Mark J. Caulfield(Queen Mary University of London), Thomas R. Rogers(Scripps Research Institute), Robert B. Jackson(Lawrence Technological University), Amy Webb(The Ohio State University Wexner Medical Center), Christine Patch(Wellcome Connecting Science), John C. Ambrose(Jackson Laboratory), Mariana Buongermino Pereira, Álvaro Rendón(Centre National de la Recherche Scientifique), C. R. Boustred, K Savage, Lesley Jones, D. Perez-Gil(Queen Mary University of London), S. A. Henderson(Conservation International), Neil Thomas(University Hospital Southampton NHS Foundation Trust), M. Mueller(Massachusetts General Hospital), R. Bevers(Maastricht University)
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