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

Corbin, Laura J.; Tan, Vanessa Y.; Hughes, David A.; Wade, Kaitlin H.; Paul, Dirk S.; Tansey, Katherine E.; Butcher, Frances; Dudbridge, Frank; Howson, Joanna M. and Jallow, Momodou W., et al. (2018) In Nature Communications 9(1).
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.

Please use this url to cite or link to this publication:
@article{8a7e47ad-8c3e-4d18-b449-e1f4d8df217b,
  abstract     = {<p>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.</p>},
  articleno    = {711},
  author       = {Corbin, Laura J. and Tan, Vanessa Y. and Hughes, David A. and Wade, Kaitlin H. and Paul, Dirk S. and Tansey, Katherine E. and Butcher, Frances and Dudbridge, Frank and Howson, Joanna M. and Jallow, Momodou W. and John, Catherine and Kingston, Nathalie and Lindgren, Cecilia M. and O'Donavan, Michael and O'Rahilly, Stephen and Owen, Michael J. and Palmer, Colin N.A. and Pearson, Ewan R. and Scott, Robert A. and Van Heel, David A. and Whittaker, John and Frayling, Tim and Tobin, Martin D. and Wain, Louise V. and Smith, George Davey and Evans, David M. and Karpe, Fredrik and McCarthy, Mark I. and Danesh, John and Franks, Paul W. and Timpson, Nicholas J.},
  issn         = {2041-1723},
  language     = {eng},
  month        = {12},
  number       = {1},
  publisher    = {Nature Publishing Group},
  series       = {Nature Communications},
  title        = {Formalising recall by genotype as an efficient approach to detailed phenotyping and causal inference},
  url          = {http://dx.doi.org/10.1038/s41467-018-03109-y},
  volume       = {9},
  year         = {2018},
}