Your browser doesn't support javascript.
loading
Characterising the loss-of-function impact of 5' untranslated region variants in 15,708 individuals.
Whiffin, Nicola; Karczewski, Konrad J; Zhang, Xiaolei; Chothani, Sonia; Smith, Miriam J; Evans, D Gareth; Roberts, Angharad M; Quaife, Nicholas M; Schafer, Sebastian; Rackham, Owen; Alföldi, Jessica; O'Donnell-Luria, Anne H; Francioli, Laurent C; Cook, Stuart A; Barton, Paul J R; MacArthur, Daniel G; Ware, James S.
Afiliação
  • Whiffin N; National Heart and Lung Institute and MRC London Institute of Medical Sciences, Imperial College London, Du Cane Road, London, W12 0NN, UK. n.whiffin@imperial.ac.uk.
  • Karczewski KJ; NIHR Royal Brompton Cardiovascular Research Centre, Royal Brompton and Harefield National Health Service Foundation Trust, Sydney Street, London, SW3 6NP, UK. n.whiffin@imperial.ac.uk.
  • Zhang X; Medical and Population Genetics, Broad Institute of MIT and Harvard, 415 Main Street, Cambridge, MA, 02142, USA. n.whiffin@imperial.ac.uk.
  • Chothani S; Medical and Population Genetics, Broad Institute of MIT and Harvard, 415 Main Street, Cambridge, MA, 02142, USA.
  • Smith MJ; Analytical and Translational Genetics Unit, Massachusetts General Hospital, 55 Fruit Street, Boston, MA, 02114, USA.
  • Evans DG; National Heart and Lung Institute and MRC London Institute of Medical Sciences, Imperial College London, Du Cane Road, London, W12 0NN, UK.
  • Roberts AM; NIHR Royal Brompton Cardiovascular Research Centre, Royal Brompton and Harefield National Health Service Foundation Trust, Sydney Street, London, SW3 6NP, UK.
  • Quaife NM; Program in Cardiovascular and Metabolic Disorders, Duke-NUS Medical School, 8 College Road, Singapore, 169857, Singapore.
  • Schafer S; NW Genomic Laboratory Hub, Centre for Genomic Medicine, Division of Evolution and Genomic Science, St Mary's Hospital, University of Manchester, Oxford Road, Manchester, M13 9WL, UK.
  • Rackham O; NW Genomic Laboratory Hub, Centre for Genomic Medicine, Division of Evolution and Genomic Science, St Mary's Hospital, University of Manchester, Oxford Road, Manchester, M13 9WL, UK.
  • Alföldi J; National Heart and Lung Institute and MRC London Institute of Medical Sciences, Imperial College London, Du Cane Road, London, W12 0NN, UK.
  • O'Donnell-Luria AH; NIHR Royal Brompton Cardiovascular Research Centre, Royal Brompton and Harefield National Health Service Foundation Trust, Sydney Street, London, SW3 6NP, UK.
  • Francioli LC; National Heart and Lung Institute and MRC London Institute of Medical Sciences, Imperial College London, Du Cane Road, London, W12 0NN, UK.
  • Cook SA; National Heart Centre Singapore, 5 Hospital Drive, Singapore, 169609, Singapore.
  • Barton PJR; Program in Cardiovascular and Metabolic Disorders, Duke-NUS Medical School, 8 College Road, Singapore, 169857, Singapore.
  • MacArthur DG; Medical and Population Genetics, Broad Institute of MIT and Harvard, 415 Main Street, Cambridge, MA, 02142, USA.
  • Ware JS; Analytical and Translational Genetics Unit, Massachusetts General Hospital, 55 Fruit Street, Boston, MA, 02114, USA.
Nat Commun ; 11(1): 2523, 2020 05 27.
Article em En | MEDLINE | ID: mdl-32461616
Assuntos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Variação Genética / Proteínas / Regiões 5' não Traduzidas / Mutação com Perda de Função Limite: Humans Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Variação Genética / Proteínas / Regiões 5' não Traduzidas / Mutação com Perda de Função Limite: Humans Idioma: En Ano de publicação: 2020 Tipo de documento: Article