Formalising recall by genotype as an efficient approach to detailed phenotyping and causal inference.
Corbin LJ., Tan VY., Hughes DA., Wade KH., Paul DS., Tansey KE., Butcher F., Dudbridge F., Howson JM., Jallow MW., John C., Kingston N., Lindgren CM., O'Donavan M., O'Rahilly S., Owen MJ., Palmer CNA., Pearson ER., Scott RA., van Heel DA., Whittaker J., Frayling T., Tobin MD., Wain LV., Smith GD., Evans DM., Karpe F., McCarthy MI., Danesh J., Franks PW., Timpson NJ.
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.