Formalising recall by genotype as an efficient approach to detailed phenotyping and causal inference

Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

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.

Detaljer

Författare
  • Laura J. Corbin
  • Vanessa Y. Tan
  • David A. Hughes
  • Kaitlin H. Wade
  • Dirk S. Paul
  • Katherine E. Tansey
  • Frances Butcher
  • Frank Dudbridge
  • Joanna M. Howson
  • Momodou W. Jallow
  • Catherine John
  • Nathalie Kingston
  • Cecilia M. Lindgren
  • Michael O'Donavan
  • Stephen O'Rahilly
  • Michael J. Owen
  • Colin N.A. Palmer
  • Ewan R. Pearson
  • Robert A. Scott
  • David A. Van Heel
  • John Whittaker
  • Tim Frayling
  • Martin D. Tobin
  • Louise V. Wain
  • George Davey Smith
  • David M. Evans
  • Fredrik Karpe
  • Mark I. McCarthy
  • John Danesh
  • Nicholas J. Timpson
Enheter & grupper
Externa organisationer
  • University of Bristol
  • University of Cambridge
  • Addenbrooke's Hospital
  • Cardiff University
  • University of Oxford
  • University of Leicester
  • London School of Hygiene and Tropical Medicine
  • MRC Unit The Gambia (MRCG)
  • Broad Institute
  • Oxford University Hospital
  • University of Dundee
  • SmithKline Beecham Pharmaceuticals
  • Queen Mary University
  • University of Exeter
  • Glenfield Hospital
  • University of Queensland
  • Churchill Hospital
  • Skåne University Hospital
  • Umeå University
  • Harvard University
  • Royal Devon & Exeter Hospital
  • Wellcome Trust Sanger Institute
Forskningsområden

Ämnesklassifikation (UKÄ) – OBLIGATORISK

  • Medicinsk genetik
  • Folkhälsovetenskap, global hälsa, socialmedicin och epidemiologi
Originalspråkengelska
Artikelnummer711
TidskriftNature Communications
Volym9
Utgivningsnummer1
StatusPublished - 2018 dec 1
PublikationskategoriForskning
Peer review utfördJa