S
Smith Kgc.
Researcher at University of Cambridge
Publications - 4
Citations - 537
Smith Kgc. is an academic researcher from University of Cambridge. The author has contributed to research in topics: Genomics & Primary immunodeficiency. The author has an hindex of 3, co-authored 4 publications receiving 272 citations.
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Journal ArticleDOI
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.
Journal ArticleDOI
Germline selection shapes human mitochondrial DNA diversity.
Wei Wei,Salih Tuna,Michael J. Keogh,Katherine R. Smith,Timothy J. Aitman,Timothy J. Aitman,PL Beales,PL Beales,David L.H. Bennett,Daniel P. Gale,Bitner-Glindzicz Mak.,Bitner-Glindzicz Mak.,Graeme C.M. Black,Graeme C.M. Black,Paul Brennan,Paul Brennan,Perry M. Elliott,Perry M. Elliott,Frances Flinter,R A Floto,R A Floto,R A Floto,Henry Houlden,Melita Irving,Ania Koziell,Ania Koziell,Eamonn R. Maher,Hugh S. Markus,Nicholas W. Morrell,William G. Newman,William G. Newman,Irene Roberts,John A. Sayer,John A. Sayer,Smith Kgc.,Jenny C. Taylor,Hugh Watkins,A. R. Webster,A. R. Webster,Wilkie Aom.,Wilkie Aom.,Catherine Williamson,Catherine Williamson,Sofie Ashford,Christopher J. Penkett,Kathleen Stirrups,Augusto Rendon,Willem H. Ouwehand,John Bradley,F L Raymond,Mark J. Caulfield,Ernest Turro,Patrick F. Chinnery +52 more
TL;DR: The characteristics of mtDNA in the human population are shaped by selective forces acting on heteroplasmy within the female germ line and are influenced by the nuclear genetic background, as indicated by population genetic evidence that selection shapes the evolving mtDNA phylogeny.
Journal ArticleDOI
Whole-genome sequencing of a sporadic primary immunodeficiency cohort
Thaventhiran Jed.,Hana Lango Allen,Oliver S. Burren,William Rae,Daniel Greene,Emily Staples,Zinan Zhang,Zinan Zhang,Farmery Jhr.,Ilenia Simeoni,Elizabeth Rivers,Elizabeth Rivers,Jesmeen Maimaris,Jesmeen Maimaris,Christopher J. Penkett,Jonathan Stephens,Jonathan Stephens,Deevi Svv.,Alba Sanchis-Juan,Alba Sanchis-Juan,Nicholas Gleadall,Nicholas Gleadall,Moira Thomas,Moira Thomas,Ravishankar Sargur,Pavels Gordins,Helen Baxendale,Helen Baxendale,Matthew A. Brown,Paul Tuijnenburg,Paul Tuijnenburg,Austen Worth,Austen Worth,Steven Hanson,Steven Hanson,Rachel Linger,Matthew Buckland,Matthew Buckland,Paula Rayner-Matthews,Kimberly Gilmour,Kimberly Gilmour,Crina Samarghitean,Suranjith L. Seneviratne,Suranjith L. Seneviratne,David M. Sansom,David M. Sansom,Andy G. Lynch,Andy G. Lynch,Karyn Megy,Eva Ellinghaus,David Ellinghaus,David Ellinghaus,Silje F. Jørgensen,Tom H. Karlsen,Kathleen Stirrups,Antony J. Cutler,Dinakantha S. Kumararatne,Anita Chandra,Edgar Jdm.,A Herwadkar,Nichola Cooper,S Grigoriadou,Aarnoud Huissoon,Sarah Goddard,Stephen Jolles,Catharina Schuetz,F Boschann,Paul A. Lyons,Matthew E. Hurles,Sinisa Savic,Siobhan O. Burns,Siobhan O. Burns,Taco W. Kuijpers,Taco W. Kuijpers,Ernest Turro,Willem H. Ouwehand,Adrian J. Thrasher,Adrian J. Thrasher,Smith Kgc. +78 more
TL;DR: Whole-genome sequencing analysis of individuals with primary immunodeficiency identifies new candidate disease-associated genes and shows how the interplay between genetic variants can explain the variable penetrance and complexity of the disease.
Journal ArticleDOI
Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohort.
Thaventhiran Jed.,H Lango Allen,Oliver S. Burren,William Rae,Daniel Greene,Emily Staples,Zinan Zhang,Zinan Zhang,Farmery Jhr.,Ilenia Simeoni,E Rivers,E Rivers,Jesmeen Maimaris,Jesmeen Maimaris,Christopher J. Penkett,Jonathan Stephens,Jonathan Stephens,Deevi Svv.,Alba Sanchis-Juan,Alba Sanchis-Juan,Nicholas Gleadall,Nicholas Gleadall,Moira Thomas,Moira Thomas,Ravishankar Sargur,Pavels Gordins,Helen Baxendale,Helen Baxendale,Matthew A. Brown,Paul Tuijnenburg,Paul Tuijnenburg,A Worth,A Worth,Steven Hanson,Steven Hanson,Rachel Linger,Matthew Buckland,Matthew Buckland,Paula Rayner-Matthews,Kimberly Gilmour,Kimberly Gilmour,Crina Samarghitean,Suranjith L. Seneviratne,Suranjith L. Seneviratne,David M. Sansom,David M. Sansom,Andy G. Lynch,Andy G. Lynch,Karyn Megy,Eva Ellinghaus,David Ellinghaus,David Ellinghaus,Silje F. Jørgensen,Tom H. Karlsen,Kathleen Stirrups,Antony J. Cutler,Dinakantha S. Kumararatne,Anita Chandra,Edgar Jdm.,A Herwadkar,Neill S. Cooper,S Grigoriadou,Aarnoud Huissoon,Sarah Goddard,Stephen Jolles,Catharina Schuetz,F Boschann,Paul A. Lyons,Matthew E. Hurles,Sinisa Savic,Siobhan O. Burns,Siobhan O. Burns,Taco W. Kuijpers,Taco W. Kuijpers,Ernest Turro,Willem H. Ouwehand,Adrian J. Thrasher,Adrian J. Thrasher,Smith Kgc. +78 more
TL;DR: An amendment to this paper has been published and can be accessed via a link at the top of the paper.