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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.

Original publication

DOI

10.1038/s41467-018-03109-y

Type

Journal article

Journal

Nature communications

Publication Date

19/02/2018

Volume

9

Addresses

MRC Integrative Epidemiology Unit at University of Bristol, Bristol, BS8 2BN, UK.