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

Laura J Corbin ORCID logo; Vanessa Y Tan; David A Hughes; Kaitlin H Wade; Dirk S Paul ORCID logo; Katherine E Tansey; Frances Butcher; Frank Dudbridge ORCID logo; Joanna M Howson; Momodou W Jallow ORCID logo; +21 more... Catherine John; Nathalie Kingston; Cecilia M Lindgren; Michael O'Donavan ORCID logo; Stephen O'Rahilly ORCID logo; Michael J Owen ORCID logo; Colin NA Palmer ORCID logo; Ewan R Pearson; Robert A Scott; David A van Heel ORCID logo; John Whittaker; Tim Frayling; Martin D Tobin ORCID logo; Louise V Wain ORCID logo; George Davey Smith; David M Evans; Fredrik Karpe; Mark I McCarthy ORCID logo; John Danesh; Paul W Franks; Nicholas J Timpson; (2018) Formalising recall by genotype as an efficient approach to detailed phenotyping and causal inference. Nature communications, 9 (1). 711-. ISSN 2041-1723 DOI: 10.1038/s41467-018-03109-y
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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.


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