Your browser has javascript turned off or blocked. This will lead to some parts of our website to not work properly or at all. Turn on javascript for best performance.

The browser you are using is not supported by this website. All versions of Internet Explorer are no longer supported, either by us or Microsoft (read more here: https://www.microsoft.com/en-us/microsoft-365/windows/end-of-ie-support).

Please use a modern browser to fully experience our website, such as the newest versions of Edge, Chrome, Firefox or Safari etc.

Paul Franks

Paul Franks

Principal investigator

Paul Franks

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

Author

  • 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. Van 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
  • Nicholas J. Timpson

Summary, in English

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.

Department/s

  • Genetic and Molecular Epidemiology
  • EXODIAB: Excellence in Diabetes Research in Sweden
  • EpiHealth: Epidemiology for Health

Publishing year

2018-12-01

Language

English

Publication/Series

Nature Communications

Volume

9

Issue

1

Document type

Journal article

Publisher

Nature Publishing Group

Topic

  • Medical Genetics
  • Public Health, Global Health, Social Medicine and Epidemiology

Status

Published

Research group

  • Genetic and Molecular Epidemiology

ISBN/ISSN/Other

  • ISSN: 2041-1723