Article
Whole-genome sequencing of patients with rare diseases in a national health system.
Nature - 1 Jul 2020
Turro Ernest, Astle William J, Megy Karyn, Gräf Stefan, Greene Daniel, Shamardina Olga, Allen Hana Lango, Sanchis-Juan Alba, Frontini Mattia, Thys Chantal, Stephens Jonathan, Mapeta Rutendo, Burren Oliver S, Downes Kate, Haimel Matthias, Tuna Salih, Deevi Sri V V, Aitman Timothy J, Bennett David L, Calleja Paul, Carss Keren, Caulfield Mark J, Chinnery Patrick F, Dixon Peter H, Gale Daniel P, James Roger, Koziell Ania, Laffan Michael A, Levine Adam P, Maher Eamonn R, Markus Hugh S, Morales Joannella, Morrell Nicholas W, Mumford Andrew D, Ormondroyd Elizabeth, Rankin Stuart, Rendon Augusto, Richardson Sylvia, Roberts Irene, Roy Noemi B A, Saleem Moin A, Smith Kenneth G C, Stark Hannah, Tan Rhea Y Y, Themistocleous Andreas C, Thrasher Adrian J, Watkins Hugh, Webster Andrew R, Wilkins Martin R, Williamson Catherine, Whitworth James, Humphray Sean, Bentley David R, Kingston Nathalie, Walker Neil, Bradley John R, Ashford Sofie, Penkett Christopher J, Freson Kathleen, Stirrups Kathleen E, Raymond F Lucy, Ouwehand Willem H
Abstract excerpt
Most patients with rare diseases do not receive a molecular diagnosis and the aetiological variants and causative genes for more than half such disorders remain to be discovered1. Here we used whole-genome sequencing (WGS) in a national health system to streamline diagnosis and to discover unknown aetiological variants in the coding and non-coding regions of the genome. We generated WGS data for 13,037...
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