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

Laura J. Corbin, Vanessa Y. Tan, David A. Hughes, Kaitlin Wade, Dirk S. Paul, Katherine E. Tansey, Frances Butcher, Frank Dudbridge, Joanna M. M. Howson, Momodou W. Jallow, Catherine John, Nathalie Kingston, Cecilia M. Lindgren, Michael O’Donavan, Stephen O'Rahilly, Michael J. Owen, Colin Palmer, Ewan Pearson, Robert A. Scott, David van HeelJohn Whittaker, Tim Frayling, Martin D. Tobin, Louise V. Wain, George Davey Smith, David M. Evans, Fredrik Karpe, Mark I. McCarthy, John Danesh, Paul W. Franks, Nicholas J. Timpson (Lead / Corresponding author)

Research output: Contribution to journalArticlepeer-review

44 Citations (Scopus)
174 Downloads (Pure)


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.
Original languageEnglish
Article number711
Pages (from-to)1-11
Number of pages11
JournalNature Communications
Issue number1
Publication statusPublished - 19 Feb 2018


  • Epidemiology
  • Genetics research
  • Medical genetics
  • Quantitative trait
  • Humans
  • Risk Factors
  • Genotype
  • United Kingdom
  • Genetic Variation
  • Phenotype
  • Molecular Epidemiology
  • Genome-Wide Association Study/methods
  • Causality

ASJC Scopus subject areas

  • General Physics and Astronomy
  • General Chemistry
  • General Biochemistry,Genetics and Molecular Biology


Dive into the research topics of 'Formalising recall by genotype as an efficient approach to detailed phenotyping and causal inference'. Together they form a unique fingerprint.

Cite this