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

• DOI: 10.1530/ey.18.14.6
• Publication Date: 2021-09-22T02:14:57Z
• Authors: Ernest Turro; William J Astle; Karyn Megy; Stefan Graf; 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 Bennett; Paul 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; Irene Roberts; Noemi B A Roy; Moin A Saleem; Kenneth G C Smith; Hannah Stark; Rhea Y Y Tan; Andreas C Themist...; Adrian J Thrasher; Hugh Watkins; Andrew R Webster; Martin R Wilkins; Catherine Williamson; James Whitworth; Sean Humphray; David R Bentley; Nathalie Kingston; Neil Walker; John R Bradley; Sofie Ashford; Christopher J Pen...; Kathleen Freson; Kathleen E Stirrups; F Lucy Raymond; Willem H Ouwehand
• Keywords: Mendelian inheritance; Personal genomics; Rare disease; Etiology

The authors applied whole-genome sequencing (WGS) in 9,802 patients with a rare disease national health system to streamline diagnosis and discover unknown aetiological variants the coding non-coding regions of genome. WGS identified genetic 1138/7065 extensively phenotyped participants. They 95 genes which mutations were very likely be cause Mendelian disease.