Nature Communications (Feb 2018)
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. 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
Affiliations
- 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
- MRC/BHF Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge
- Katherine E. Tansey
- Core Bioinformatics and Statistics Team, College of Biomedical & Life Sciences, Cardiff University
- Frances Butcher
- Oxford School of Public Health, University of Oxford
- Frank Dudbridge
- Department of Health Sciences, University of Leicester
- Joanna M. Howson
- MRC/BHF Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge
- Momodou W. Jallow
- Department of Epidemiology and Population Health, London School of Hygiene and Tropical Medicine
- Catherine John
- Department of Health Sciences, University of Leicester
- Nathalie Kingston
- National Institute for Health Research (NIHR) BioResource for Translational Research in Common and Rare Diseases & NIHR BioResource Centre Cambridge, University of Cambridge
- Cecilia M. Lindgren
- Big Data Institute at the Li Ka Shing Centre for Health Information and Discovery, University of Oxford
- Michael O’Donavan
- MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University
- Stephen O’Rahilly
- Metabolic Research Laboratories, Institute of Metabolic Science, University of Cambridge
- Michael J. Owen
- MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University
- Colin N. A. Palmer
- Medical Research Institute, University of Dundee, Ninewells Hospital and Medical School
- Ewan R. Pearson
- Medical Research Institute, University of Dundee, Ninewells Hospital and Medical School
- Robert A. Scott
- Quantitative Sciences, GlaxoSmithKline
- David A. van Heel
- Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London
- John Whittaker
- Department of Epidemiology and Population Health, London School of Hygiene and Tropical Medicine
- Tim Frayling
- Genetics of Complex Traits, Institute of Biomedical and Clinical Science, University of Exeter Medical School, Royal Devon and Exeter Hospital
- Martin D. Tobin
- Department of Health Sciences, University of Leicester
- Louise V. Wain
- Department of Health Sciences, 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
- Oxford Centre for Diabetes, Endocrinology and Metabolism, Radcliffe Department of Medicine, University of Oxford
- Mark I. McCarthy
- Wellcome Trust Centre for Human Genetics, University of Oxford
- John Danesh
- MRC/BHF Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge
- Paul W. Franks
- Oxford Centre for Diabetes, Endocrinology and Metabolism, Radcliffe Department of Medicine, University of Oxford
- Nicholas J. Timpson
- MRC Integrative Epidemiology Unit at University of Bristol
- DOI
- https://doi.org/10.1038/s41467-018-03109-y
- Journal volume & issue
-
Vol. 9,
no. 1
pp. 1 – 11
Abstract
Recall-by-Genotype (RbG) is an approach to recall participants from genetic studies based on their specific genotype for further, more extensive phenotyping. Here, the authors discuss examples of RbG as well as practical and ethical considerations and provide an online tool to aid in designing RbG studies.
