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

Artikel i vetenskaplig tidskrift
Författare 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 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 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
Hanns-Ulrich Marschall
Publicerad i Nature
Volym 583
Nummer/häfte 7814
Sidor 96-102
ISSN 1476-4687
Publiceringsår 2020
Publicerad vid Institutionen för medicin, avdelningen för molekylär och klinisk medicin
Sidor 96-102
Språk en
Länkar dx.doi.org/10.1038/s41586-020-2434-...
www.ncbi.nlm.nih.gov/entrez/query.f...
Ämneskategorier Allmän medicin

Sammanfattning

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 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 participants2, 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 identified four novel non-coding variants that cause disease through the disruption of transcription of ARPC1B, GATA1, LRBA and MPL. Our study demonstrates a synergy by using WGS for diagnosis and aetiological discovery in routine healthcare.

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