作者
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 VV 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 BA Roy, Moin A Saleem, Kenneth GC Smith, Hannah Stark, Rhea YY Tan, Andreas C Themistocleous, 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 Penkett, Kathleen Freson, Kathleen E Stirrups, F Lucy Raymond, Willem H Ouwehand
发表日期
2020/7/2
期刊
Nature
卷号
583
期号
7814
页码范围
96-102
出版商
Nature Publishing Group UK
简介
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 discovered. 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 participants, of whom 9,802 had a rare disease, and provided a genetic diagnosis to 1,138 of the 7,065 extensively phenotyped participants. We identified 95 Mendelian associations between genes and rare diseases, of which 11 have been discovered since 2015 and at least 79 are confirmed to be aetiological. By generating WGS data of UK Biobank participants, we found that rare alleles can explain the presence of some individuals in the tails of a quantitative trait for red blood cells. Finally, we …
学术搜索中的文章
E Turro, WJ Astle, K Megy, S Gräf, D Greene… - Nature, 2020