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, FrancesDudbridge, FrankHowson, Joanna M.Jallow, Momodou W.John, CatherineKingston, NathalieLindgren, Cecilia M.O’Donavan, MichaelO’Rahilly, StephenOwen, Michael J.Palmer, Colin N. A.Pearson, Ewan R.Scott, Robert A.van Heel, David A.Whittaker, JohnFrayling, TimTobin, Martin D.Wain, Louise V.Smith, George DaveyEvans, David M.Karpe, FredrikMcCarthy, Mark I.Danesh, JohnFranks, PaulTimpson, Nicholas J.2018-03-202018Corbin, L. J., V. Y. Tan, D. A. Hughes, K. H. Wade, D. S. Paul, K. E. Tansey, F. Butcher, et al. 2018. “Formalising recall by genotype as an efficient approach to detailed phenotyping and causal inference.” Nature Communications 9 (1): 711. doi:10.1038/s41467-018-03109-y. http://dx.doi.org/10.1038/s41467-018-03109-y.http://nrs.harvard.edu/urn-3:HUL.InstRepos:35015045Detailed 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.en-USFormalising recall by genotype as an efficient approach to detailed phenotyping and causal inferenceJournal Article2018-03-2010.1038/s41467-018-03109-y