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Formalising recall by genotype as an efficient approach to detailed phenotyping and causal inference.
Corbin, Laura J; Tan, Vanessa Y; Hughes, David A; Wade, Kaitlin H; Paul, Dirk S; Tansey, Katherine E; Butcher, Frances; Dudbridge, Frank; Howson, Joanna M; Jallow, Momodou W; John, Catherine; Kingston, Nathalie; Lindgren, Cecilia M; O'Donavan, Michael; O'Rahilly, Stephen; Owen, Michael J; Palmer, Colin N A; Pearson, Ewan R; Scott, Robert A; van Heel, David A; Whittaker, John; Frayling, Tim; Tobin, Martin D; Wain, Louise V; Smith, George Davey; Evans, David M; Karpe, Fredrik; McCarthy, Mark I; Danesh, John; Franks, Paul W; Timpson, Nicholas J.
Affiliation
  • Corbin LJ; MRC Integrative Epidemiology Unit at University of Bristol, Bristol, BS8 2BN, UK.
  • Tan VY; Population Health Sciences, Bristol Medical School, University of Bristol, Bristol, BS8 2BN, UK.
  • Hughes DA; MRC Integrative Epidemiology Unit at University of Bristol, Bristol, BS8 2BN, UK.
  • Wade KH; Population Health Sciences, Bristol Medical School, University of Bristol, Bristol, BS8 2BN, UK.
  • Paul DS; MRC Integrative Epidemiology Unit at University of Bristol, Bristol, BS8 2BN, UK.
  • Tansey KE; Population Health Sciences, Bristol Medical School, University of Bristol, Bristol, BS8 2BN, UK.
  • Butcher F; MRC Integrative Epidemiology Unit at University of Bristol, Bristol, BS8 2BN, UK.
  • Dudbridge F; Population Health Sciences, Bristol Medical School, University of Bristol, Bristol, BS8 2BN, UK.
  • Howson JM; MRC/BHF Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge, CB1 8RN, UK.
  • Jallow MW; British Heart Foundation (BHF) Centre of Excellence, Division of Cardiovascular Medicine, Addenbrooke's Hospital, Cambridge, CB2 0QQ, UK.
  • John C; Core Bioinformatics and Statistics Team, College of Biomedical & Life Sciences, Cardiff University, Cardiff, CF10 3XQ, UK.
  • Kingston N; Oxford School of Public Health, University of Oxford, Oxford, OX3 7LF, UK.
  • Lindgren CM; Department of Health Sciences, University of Leicester, Leicester, LE1 7RH, UK.
  • O'Donavan M; MRC/BHF Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge, CB1 8RN, UK.
  • O'Rahilly S; Department of Epidemiology and Population Health, London School of Hygiene and Tropical Medicine, London, WC1E 7HT, UK.
  • Owen MJ; MRC Unit The Gambia (MRCG), Atlantic Boulevard, Fajara, P.O. Box 273, Banjul, Gambia.
  • Palmer CNA; Department of Health Sciences, University of Leicester, Leicester, LE1 7RH, UK.
  • Pearson ER; National Institute for Health Research (NIHR) BioResource for Translational Research in Common and Rare Diseases & NIHR BioResource Centre Cambridge, University of Cambridge, Cambridge, CB2 0QQ, UK.
  • Scott RA; Big Data Institute at the Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford, OX3 7FZ, UK.
  • van Heel DA; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, OX3 7BN, UK.
  • Whittaker J; Program in Medical and Population Genetics, Broad Institute, Cambridge, MA, 02142, USA.
  • Frayling T; NIHR Oxford Biomedical Research Centre, OUH Hospital, Oxford, OX4 2PG, UK.
  • Tobin MD; MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, Cardiff, CF24 4HQ, UK.
  • Wain LV; Metabolic Research Laboratories, Institute of Metabolic Science, University of Cambridge, Cambridge, CB2 0QQ, UK.
  • Smith GD; MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, Cardiff, CF24 4HQ, UK.
  • Evans DM; Medical Research Institute, University of Dundee, Ninewells Hospital and Medical School, Dundee, DD1 9SY, UK.
  • Karpe F; Medical Research Institute, University of Dundee, Ninewells Hospital and Medical School, Dundee, DD1 9SY, UK.
  • McCarthy MI; Quantitative Sciences, GlaxoSmithKline, Stevenage, SG1 2NY, UK.
  • Danesh J; Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, E1 2AT, UK.
  • Franks PW; Department of Epidemiology and Population Health, London School of Hygiene and Tropical Medicine, London, WC1E 7HT, UK.
  • Timpson NJ; Statistical Genetics, Projects, Clinical Platforms, and Sciences (PCPS), GlaxoSmithKline, Research Triangle Park, NC, 27709, USA.
Nat Commun ; 9(1): 711, 2018 02 19.
Article de En | MEDLINE | ID: mdl-29459775
ABSTRACT
Detailed phenotyping is required to deepen our understanding of the biological mechanisms behind genetic associations. In addition, the impact of potentially modifiable risk factors on disease requires analytical frameworks that allow causal inference. Here, we discuss the characteristics of Recall-by-Genotype (RbG) as a study design aimed at addressing both these needs. We describe two broad scenarios for the application of RbG studies using single variants and those using multiple variants. We consider the efficacy and practicality of the RbG approach, provide a catalogue of UK-based resources for such studies and present an online RbG study planner.
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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Phénotype / Étude d'association pangénomique / Génotype Type d'étude: Etiology_studies / Risk_factors_studies Limites: Humans Pays/Région comme sujet: Europa Langue: En Journal: Nat Commun Sujet du journal: BIOLOGIA / CIENCIA Année: 2018 Type de document: Article Pays d'affiliation: Royaume-Uni
Texte intégral
Ajouter à My VHL
Imprimer
XML
PubMed Links
Recherche sur Google

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Phénotype / Étude d'association pangénomique / Génotype Type d'étude: Etiology_studies / Risk_factors_studies Limites: Humans Pays/Région comme sujet: Europa Langue: En Journal: Nat Commun Sujet du journal: BIOLOGIA / CIENCIA Année: 2018 Type de document: Article Pays d'affiliation: Royaume-Uni