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

Author

Listed:
  • Laura J. Corbin

    (MRC Integrative Epidemiology Unit at University of Bristol
    University of Bristol)

  • Vanessa Y. Tan

    (MRC Integrative Epidemiology Unit at University of Bristol
    University of Bristol)

  • David A. Hughes

    (MRC Integrative Epidemiology Unit at University of Bristol
    University of Bristol)

  • Kaitlin H. Wade

    (MRC Integrative Epidemiology Unit at University of Bristol
    University of Bristol)

  • Dirk S. Paul

    (University of Cambridge
    Addenbrooke’s Hospital)

  • 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
    MRC Unit The Gambia (MRCG))

  • Catherine John

    (University of Leicester)

  • Nathalie Kingston

    (University of Cambridge)

  • Cecilia M. Lindgren

    (University of Oxford
    University of Oxford
    Broad Institute
    OUH Hospital)

  • 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
    GlaxoSmithKline)

  • Tim Frayling

    (Royal Devon and Exeter Hospital)

  • Martin D. Tobin

    (University of Leicester
    Glenfield Hospital)

  • Louise V. Wain

    (University of Leicester
    Glenfield Hospital)

  • George Davey Smith

    (MRC Integrative Epidemiology Unit at University of Bristol
    University of Bristol)

  • David M. Evans

    (MRC Integrative Epidemiology Unit at University of Bristol
    University of Bristol
    Translational Research Institute)

  • Fredrik Karpe

    (University of Oxford
    Churchill Hospital)

  • Mark I. McCarthy

    (University of Oxford
    University of Oxford
    Churchill Hospital)

  • John Danesh

    (University of Cambridge
    Addenbrooke’s Hospital
    Wellcome Trust Sanger Institute
    University of Cambridge)

  • Paul W. Franks

    (University of Oxford
    Skåne University Hospital
    Umeå University
    Harvard T.H. Chan School of Public Health)

  • Nicholas J. Timpson

    (MRC Integrative Epidemiology Unit at University of Bristol
    University of Bristol)

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.

Suggested Citation

  • 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 & , 2018. "Formalising recall by genotype as an efficient approach to detailed phenotyping and causal inference," Nature Communications, Nature, vol. 9(1), pages 1-11, December.
    • Handle: RePEc:nat:natcom:v:9:y:2018:i:1:d:10.1038_s41467-018-03109-y
    DOI: 10.1038/s41467-018-03109-y
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    Cited by:

    1. David Stacey & Lingyan Chen & Paulina J. Stanczyk & Joanna M. M. Howson & Amy M. Mason & Stephen Burgess & Stephen MacDonald & Jonathan Langdown & Harriett McKinney & Kate Downes & Neda Farahi & James, 2022. "Elucidating mechanisms of genetic cross-disease associations at the PROCR vascular disease locus," Nature Communications, Nature, vol. 13(1), pages 1-15, December.

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