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

Corbin, L, Tan, V, Wade, K, Paul, D, Tansey, Katherine E., Butcher, F, Dudbridge, F, Howson, J, Jallow, M, John, C, Kingston, N, Lindgren, C, O' Donavan, Michael, O’Rahilly, S, Owen, Michael ORCID:, Palmer, C, Pearson, E, Scott, R, van Heel, D, Whittaker, J, Frayling, T, Tobin, M, Wain, L, Smith, G, Evans, D, Karpe, F, McCarthy, M, Danesh, J, Franks, P and Timpson, N 2018. Formalising recall by genotype as an efficient approach to detailed phenotyping and causal inference. Nature Communications 9 , 711. 10.1038/s41467-018-03109-y

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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

Item Type: Article
Date Type: Published Online
Status: Published
Schools: Medicine
MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Neuroscience and Mental Health Research Institute (NMHRI)
Publisher: Nature Publishing Group
ISSN: 2041-1723
Date of First Compliant Deposit: 1 February 2018
Date of Acceptance: 19 January 2018
Last Modified: 13 May 2023 02:34

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