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Formalising recall by genotype as an efficient approach to detailed phenotyping and causal inference
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-...
| Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group UK
2018
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5818506/ https://www.ncbi.nlm.nih.gov/pubmed/29459775 http://dx.doi.org/10.1038/s41467-018-03109-y |
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| author | 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. Jallow, Momodou W. John, Catherine Kingston, Nathalie Lindgren, Cecilia M. O’Donavan, Michael O’Rahilly, Stephen Owen, Michael J. Palmer, Colin N. A. Pearson, Ewan R. Scott, Robert A. van Heel, David A. Whittaker, John Frayling, Tim Tobin, Martin D. Wain, Louise V. Smith, George Davey Evans, David M. Karpe, Fredrik McCarthy, Mark I. Danesh, John Franks, Paul W. Timpson, Nicholas J. |
| author_facet | 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. Jallow, Momodou W. John, Catherine Kingston, Nathalie Lindgren, Cecilia M. O’Donavan, Michael O’Rahilly, Stephen Owen, Michael J. Palmer, Colin N. A. Pearson, Ewan R. Scott, Robert A. van Heel, David A. Whittaker, John Frayling, Tim Tobin, Martin D. Wain, Louise V. Smith, George Davey Evans, David M. Karpe, Fredrik McCarthy, Mark I. Danesh, John Franks, Paul W. Timpson, Nicholas J. |
| author_sort | Corbin, Laura J. |
| collection | PubMed |
| description | 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. |
| format | Online Article Text |
| id | pubmed-5818506 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2018 |
| publisher | Nature Publishing Group UK |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-58185062018-02-22 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. Jallow, Momodou W. John, Catherine Kingston, Nathalie Lindgren, Cecilia M. O’Donavan, Michael O’Rahilly, Stephen Owen, Michael J. Palmer, Colin N. A. Pearson, Ewan R. Scott, Robert A. van Heel, David A. Whittaker, John Frayling, Tim Tobin, Martin D. Wain, Louise V. Smith, George Davey Evans, David M. Karpe, Fredrik McCarthy, Mark I. Danesh, John Franks, Paul W. Timpson, Nicholas J. Nat Commun Review Article 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. Nature Publishing Group UK 2018-02-19 /pmc/articles/PMC5818506/ /pubmed/29459775 http://dx.doi.org/10.1038/s41467-018-03109-y Text en © The Author(s) 2018 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/. |
| spellingShingle | Review Article 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. Jallow, Momodou W. John, Catherine Kingston, Nathalie Lindgren, Cecilia M. O’Donavan, Michael O’Rahilly, Stephen Owen, Michael J. Palmer, Colin N. A. Pearson, Ewan R. Scott, Robert A. van Heel, David A. Whittaker, John Frayling, Tim Tobin, Martin D. Wain, Louise V. Smith, George Davey Evans, David M. Karpe, Fredrik McCarthy, Mark I. Danesh, John Franks, Paul W. Timpson, Nicholas J. Formalising recall by genotype as an efficient approach to detailed phenotyping and causal inference |
| title | Formalising recall by genotype as an efficient approach to detailed phenotyping and causal inference |
| title_full | Formalising recall by genotype as an efficient approach to detailed phenotyping and causal inference |
| title_fullStr | Formalising recall by genotype as an efficient approach to detailed phenotyping and causal inference |
| title_full_unstemmed | Formalising recall by genotype as an efficient approach to detailed phenotyping and causal inference |
| title_short | Formalising recall by genotype as an efficient approach to detailed phenotyping and causal inference |
| title_sort | formalising recall by genotype as an efficient approach to detailed phenotyping and causal inference |
| topic | Review Article |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5818506/ https://www.ncbi.nlm.nih.gov/pubmed/29459775 http://dx.doi.org/10.1038/s41467-018-03109-y |
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