Whole-genome sequencing of patients with rare diseases in a national health system

NIHR BioResource for the 100,000 Genomes Project, Ernest Turro, William J. Astle, Karyn Megy, Stefan Gräf, Daniel Greene, Olga Shamardina, Hana Lango Allen, Alba Sanchis-Juan, Mattia Frontini, Chantal Thys, Jonathan Stephens, Rutendo Mapeta, Oliver S. Burren, Kate Downes, Matthias Haimel, Salih Tuna, Sri V.V. Deevi, Timothy J. Aitman, David L. BennettPaul Calleja, Keren Carss, Mark J. Caulfield, Patrick F. Chinnery, Peter H. Dixon, Daniel P. Gale, Roger James, Ania Koziell, Michael A. Laffan, Adam P. Levine, Eamonn R. Maher, Hugh S. Markus, Joannella Morales, Nicholas W. Morrell, Andrew D. Mumford, Elizabeth Ormondroyd, Stuart Rankin, Augusto Rendon, Sylvia Richardson, David L. Bennett, Teofila Bueser, Gerald Carr-White, Frances A. Flinter, Melita Irving, Dragana Josifova, Ania Koziell, Shehla N. Mohammed, Ellen Thomas, Matthew Traylor, Richard Trembath, Catherine Williamson

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Biochemistry, Genetics and Molecular Biology