Title |
Formalising recall by genotype as an efficient approach to detailed phenotyping and causal inference
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Published in |
Nature Communications, February 2018
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DOI | 10.1038/s41467-018-03109-y |
Pubmed ID | |
Authors |
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 |
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. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United Kingdom | 15 | 44% |
United States | 4 | 12% |
Switzerland | 2 | 6% |
Chile | 1 | 3% |
Canada | 1 | 3% |
Unknown | 11 | 32% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 19 | 56% |
Scientists | 9 | 26% |
Practitioners (doctors, other healthcare professionals) | 5 | 15% |
Science communicators (journalists, bloggers, editors) | 1 | 3% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 119 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Ph. D. Student | 22 | 18% |
Researcher | 19 | 16% |
Student > Bachelor | 10 | 8% |
Student > Postgraduate | 7 | 6% |
Student > Doctoral Student | 7 | 6% |
Other | 26 | 22% |
Unknown | 28 | 24% |
Readers by discipline | Count | As % |
---|---|---|
Biochemistry, Genetics and Molecular Biology | 26 | 22% |
Medicine and Dentistry | 23 | 19% |
Agricultural and Biological Sciences | 12 | 10% |
Design | 4 | 3% |
Immunology and Microbiology | 3 | 3% |
Other | 14 | 12% |
Unknown | 37 | 31% |