S
S Rankin
Researcher at University of Cambridge
Publications - 1
Citations - 267
S Rankin is an academic researcher from University of Cambridge. The author has contributed to research in topics: Rare disease & LRBA. The author has an hindex of 1, co-authored 1 publications receiving 119 citations.
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Whole-genome sequencing of patients with rare diseases in a national health system.
Ernest Turro,William J. Astle,William J. Astle,Karyn Megy,Stefan Gräf,Daniel Greene,Olga Shamardina,Hana Lango Allen,Alba Sanchis-Juan,Mattia Frontini,Mattia Frontini,Mattia Frontini,Chantal Thys,Jonathan Stephens,Rutendo Mapeta,Oliver S. Burren,Kate Downes,Matthias Haimel,Salih Tuna,Deevi Svv.,Timothy J. Aitman,Timothy J. Aitman,David L.H. Bennett,David L.H. Bennett,P Calleja,Keren J. Carss,Mark J. Caulfield,Patrick F. Chinnery,Peter H. Dixon,Daniel P. Gale,Rachael H. James,Ania Koziell,Ania Koziell,Michael Laffan,Michael Laffan,Adam P. Levine,Eamonn R. Maher,Hugh S. Markus,Joannella Morales,Nicholas W. Morrell,Andrew D Mumford,Andrew D Mumford,Elizabeth Ormondroyd,S Rankin,Augusto Rendon,Sylvia Richardson,Irene Roberts,Roy Nba.,M A Saleem,M A Saleem,Smith Kgc.,Hannah Stark,Tan Ryy.,Andreas C. Themistocleous,Adrian J. Thrasher,Hugh Watkins,Andrew R. Webster,Andrew R. Webster,Martin R. Wilkins,Catherine Williamson,Catherine Williamson,James A. G. Whitworth,Sean Humphray,David R. Bentley,Nathalie Kingston,Neil Walker,John Bradley,Sofie Ashford,Christopher J. Penkett,Kathleen Freson,Kathleen Stirrups,F. Lucy Raymond,Willem H. Ouwehand +72 more
TL;DR: This study used whole-genome sequencing in a national health system to streamline diagnosis and to discover unknown aetiological variants in the coding and non-coding regions of the genome, finding that rare alleles can explain the presence of some individuals in the tails of a quantitative trait for red blood cells.