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

Research output: Contribution to journalArticle


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.


  • 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
External organisations
  • 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
Research areas and keywords

Subject classification (UKÄ) – MANDATORY

  • Medical Genetics
  • Public Health, Global Health, Social Medicine and Epidemiology
Original languageEnglish
Article number711
JournalNature Communications
Issue number1
Publication statusPublished - 2018 Dec 1
Publication categoryResearch