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

Nat Commun
Authors
Keywords
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.

Year of Publication
2018
Journal
Nat Commun
Volume
9
Issue
1
Pages
711
Date Published
2018 02 19
ISSN
2041-1723
DOI
10.1038/s41467-018-03109-y
PubMed ID
29459775
PubMed Central ID
PMC5818506
Links
Grant list
MC_UU_12012/1 / MRC_ / Medical Research Council / United Kingdom
MC_U123292700 / MRC_ / Medical Research Council / United Kingdom
G0600705 / MRC_ / Medical Research Council / United Kingdom
MC_UU_12012/5 / MRC_ / Medical Research Council / United Kingdom
MC_EX_MR/M01424X/1 / MRC_ / Medical Research Council / United Kingdom
MR/L003120/1 / MRC_ / Medical Research Council / United Kingdom
U01 DK105535 / DK / NIDDK NIH HHS / United States
MC_PC_MR/R020183/1 / MRC_ / Medical Research Council / United Kingdom
MC_PC_15018 / MRC_ / Medical Research Council / United Kingdom
RG/16/4/32218 / BHF_ / British Heart Foundation / United Kingdom
MC_UU_12013/1 / MRC_ / Medical Research Council / United Kingdom
MC_UU_12013/4 / MRC_ / Medical Research Council / United Kingdom
MR/P02811X/1 / MRC_ / Medical Research Council / United Kingdom
G0902313 / MRC_ / Medical Research Council / United Kingdom
MR/P00167X/1 / MRC_ / Medical Research Council / United Kingdom
G9815508 / MRC_ / Medical Research Council / United Kingdom
MC_UU_12013/3 / MRC_ / Medical Research Council / United Kingdom
MR/P013880/1 / MRC_ / Medical Research Council / United Kingdom
MR/N011317/1 / MRC_ / Medical Research Council / United Kingdom
MR/L020149/1 / MRC_ / Medical Research Council / United Kingdom
MC_UU_00026/3 / MRC_ / Medical Research Council / United Kingdom
MR/L010305/1 / MRC_ / Medical Research Council / United Kingdom