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

Published version
Peer-reviewed

Change log

Authors

Tan, Vanessa Y 
Hughes, David A 
Wade, Kaitlin H 

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.

Description

Keywords

Causality, Genetic Variation, Genome-Wide Association Study, Genotype, Humans, Molecular Epidemiology, Phenotype, Risk Factors, United Kingdom

Journal Title

Nat Commun

Conference Name

Journal ISSN

2041-1723
2041-1723

Volume Title

9

Publisher

Springer Science and Business Media LLC
Sponsorship
Cambridge University Hospitals NHS Foundation Trust (CUH) (146281)
Medical Research Council (MC_qA137933)
MRC (MR/J006599/1)
MRC (MR/J006602/1)
British Heart Foundation (via Newcastle University) (AJS/JFA/RES/0146/7211)
British Heart Foundation (None)
Wellcome Trust (084711/Z/08/Z)
British Heart Foundation (SP/02/002)
British Heart Foundation (FS/06/025)
MRC (MR/J015709/1)
European Research Council (268834)
European Commission (279233)
National Institute of Neurological Disorders and Stroke (R21NS064908)
Medical Research Council (MR/L003120/1)
British Heart Foundation (None)
Cambridge University Hospitals NHS Foundation Trust (CUH) (BRC 2012-2017)
NHS Blood and Transplant (NHSBT) (11-01-GEN)
European Commission (279143)
NHS Blood and Transplant (NHSBT) (WP12-01)
Ume� University (unknown)
University of Sheffield (R/130423)
Medical Research Council (MR/P013880/1)
British Heart Foundation (CH/12/2/29428)
Cambridge University Hospitals NHS Foundation Trust (CUH) (BRC)
European Commission and European Federation of Pharmaceutical Industries and Associations (EFPIA) FP7 Innovative Medicines Initiative (IMI) (116074)
Medical Research Council (MR/P02811X/1)
Medical Research Council (MR/M012816/1)
Cambridge University Hospitals NHS Foundation Trust (CUH) (146281)
Cambridge University Hospitals NHS Foundation Trust (CUH) (146281)
British Heart Foundation (RG/16/4/32218)
Cambridge University Hospitals NHS Foundation Trust (CUH) (3819-1617-25)
Department of Health (via National Institute for Health Research (NIHR)) (NIHR BTRU-2014-10024)
Cambridge University Hospitals NHS Foundation Trust (CUH) (3819-1516-29)
Cambridge University Hospitals NHS Foundation Trust (CUH) (unknown)
Wellcome Trust (100574/Z/12/Z)
Medical Research Council (MC_UU_12012/1)
Medical Research Council (MC_UU_12012/5)
Wellcome Trust (105602/Z/14/Z)
British Heart Foundation (None)
TCC (None)
Medical Research Council (MC_PC_12012)