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

Laura J. Corbin, Vanessa Y. Tan, David A. Hughes, Kaitlin H. Wade, Dirk S. Paul, Katherine E. Tansey, Frances Butcher, Frank Dudbridge, Joanna M. Howson, Momodou W. Jallow, Catherine John, Nathalie Kingston, Cecilia M. Lindgren, Michael O’Donavan, Stephen O’Rahilly, Michael J. Owen, Colin N. A. Palmer, Ewan R. Pearson, Robert A. Scott, David A. Heel, John Whittaker, Tim Frayling, Martin D. Tobin, Louise V. Wain, George Davey Smith, David M. Evans, Fredrik Karpe, Mark I. McCarthy, John Danesh, Paul W. Franks and Nicholas J. Timpson ()
Additional contact information
Laura J. Corbin: MRC Integrative Epidemiology Unit at University of Bristol
Vanessa Y. Tan: MRC Integrative Epidemiology Unit at University of Bristol
David A. Hughes: MRC Integrative Epidemiology Unit at University of Bristol
Kaitlin H. Wade: MRC Integrative Epidemiology Unit at University of Bristol
Dirk S. Paul: University of Cambridge
Katherine E. Tansey: Cardiff University
Frances Butcher: University of Oxford
Frank Dudbridge: University of Leicester
Joanna M. Howson: University of Cambridge
Momodou W. Jallow: London School of Hygiene and Tropical Medicine
Catherine John: University of Leicester
Nathalie Kingston: University of Cambridge
Cecilia M. Lindgren: University of Oxford
Michael O’Donavan: Cardiff University
Stephen O’Rahilly: University of Cambridge
Michael J. Owen: Cardiff University
Colin N. A. Palmer: Ninewells Hospital and Medical School
Ewan R. Pearson: Ninewells Hospital and Medical School
Robert A. Scott: GlaxoSmithKline
David A. Heel: Queen Mary University of London
John Whittaker: London School of Hygiene and Tropical Medicine
Tim Frayling: Royal Devon and Exeter Hospital
Martin D. Tobin: University of Leicester
Louise V. Wain: University of Leicester
George Davey Smith: MRC Integrative Epidemiology Unit at University of Bristol
David M. Evans: MRC Integrative Epidemiology Unit at University of Bristol
Fredrik Karpe: University of Oxford
Mark I. McCarthy: University of Oxford
John Danesh: University of Cambridge
Paul W. Franks: University of Oxford
Nicholas J. Timpson: MRC Integrative Epidemiology Unit at University of Bristol

Nature Communications, 2018, vol. 9, issue 1, 1-11

Abstract: 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.

Date: 2018
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DOI: 10.1038/s41467-018-03109-y

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