Formalising recall by genotype as an efficient approach to detailed phenotyping and causal inference.
review · Level V
Where this comes from
- Record sourced from PubMed, PMID 29459775.
- Also identified by DOI 10.1038/s41467-018-03109-y and PMC identifier 5818506.
- Licence recorded as CC BY.
- The licence permits redistribution, so the abstract is shown in full and the full text is available from the publisher.
Abstract
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.
Medical subject headings
- Genome-Wide Association Study
- Genotype
- Phenotype