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

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Authors
  Corbin, Laura J
Tan, Vanessa Y
  Hughes, David A
  Wade, Kaitlin H
  Paul, Dirk
  Tansey, Katherine E
  Butcher, Frances
Publication Date
2018-02-19
Journal Title
Nature communications
ISSN
2041-1723
Publisher
Springer Nature
Volume
9
Issue
1
Pages
711
Language
eng
Type
Article
This Version
VoR
Physical Medium
Electronic
Metadata
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Citation
Corbin, L. J., Tan, V. Y., Hughes, D. A., Wade, K. H., Paul, D., Tansey, K. E., Butcher, F., et al. (2018). Formalising recall by genotype as an efficient approach to detailed phenotyping and causal inference.. Nature communications, 9 (1), 711. https://doi.org/10.1038/s41467-018-03109-y
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.
Keywords
Humans, Risk Factors, Causality, Genotype, Phenotype, Genetic Variation, Genome-Wide Association Study, Molecular Epidemiology, United Kingdom
Sponsorship
Cambridge University Hospitals NHS Foundation Trust (CUH) (146281)
MRC (MC_qA137933)
MRC (MR/J006599/1)
MRC (MR/J006602/1)
British Heart Foundation (via Newcastle University) (AJS/JFA/RES/0146/7211)
British Heart Foundation (SP/08/007/23628)
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 (NINDS) (R21NS064908)
MRC (MR/L003120/1)
British Heart Foundation (RG/13/13/30194)
Cambridge University Hospitals NHS Foundation Trust (CUH) (BRC 2012-2017)
NHS Blood and Transplant (NHSBT) (11-01-GEN)
EC FP7 CP (279143)
NHS Blood and Transplant (NHSBT) (WP12-01)
Ume� University (unknown)
University of Sheffield (R/130423)
MRC (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)
MRC (MR/P02811X/1)
MRC (via University of Leicester) (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)
MRC (MC_UU_12012/1)
MRC (MC_UU_12012/5)
WELLCOME TRUST (105602/Z/14/Z)
British Heart Foundation (RE/13/6/30180)
Embargo Lift Date
2100-01-01
Identifiers
External DOI: https://doi.org/10.1038/s41467-018-03109-y
This record's URL: https://www.repository.cam.ac.uk/handle/1810/274185

Rights
Attribution 4.0 International
Licence URL: http://creativecommons.org/licenses/by/4.0/


The following licence files are associated with this item:

Attribution 4.0 International
Except where otherwise noted, this item's licence is described as Attribution 4.0 International