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

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 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*

*Corresponding author for this work

Research output: Contribution to journalReview article (Academic Journal)peer-review

38 Citations (Scopus)
267 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
Number of pages11
JournalNature Communications
Issue number1
Publication statusPublished - 19 Feb 2018

Structured keywords

  • ICEP


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