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

Laura J. Corbin, Vanessa Y. Tan, David A. Hughes, Kaitlin Wade, Dirk S. Paul, Katherine E. Tansey, Frances Butcher, Frank Dudbridge, Joanna M. M. Howson, Momodou W. Jallow, Catherine John, Nathalie Kingston, Cecilia M. Lindgren, Michael O’Donavan, Stephen O'Rahilly, Michael J. Owen, Colin Palmer, Ewan Pearson, Robert A. Scott, David van HeelJohn 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, Nicholas J. Timpson

Research output: Contribution to journalArticle

18 Citations (Scopus)
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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.
Original languageEnglish
Article number711
Pages (from-to)1-11
Number of pages11
JournalNature Communications
Volume9
Issue number1
DOIs
Publication statusPublished - 19 Feb 2018

Keywords

  • Epidemiology
  • Genetics research
  • Medical genetics
  • Quantitative trait
  • Humans
  • Risk Factors
  • Genotype
  • United Kingdom
  • Genetic Variation
  • Phenotype
  • Molecular Epidemiology
  • Genome-Wide Association Study/methods
  • Causality

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