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-...
| Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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| Format: | Journal article |
| Language: | English |
| Published: |
Nature Publishing Group
2018
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| _version_ | 1797090794875650048 |
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| author | Corbin, LJ Tan, VY Hughes, DA Wade, KH Paul, DS Tansey, KE Butcher, F Dudbridge, F Howson, JM Jallow, MW John, C Kingston, N Lindgren, CM O'Donavan, M O'Rahilly, S Owen, MJ Palmer, CNA Pearson, ER Scott, RA DA van Heel Whittaker, J Frayling, T Tobin, MD Wain, LV Smith, GD Evans, DM Karpe, F McCarthy, MI Danesh, J Franks, PW Timpson, NJ |
| author_facet | Corbin, LJ Tan, VY Hughes, DA Wade, KH Paul, DS Tansey, KE Butcher, F Dudbridge, F Howson, JM Jallow, MW John, C Kingston, N Lindgren, CM O'Donavan, M O'Rahilly, S Owen, MJ Palmer, CNA Pearson, ER Scott, RA DA van Heel Whittaker, J Frayling, T Tobin, MD Wain, LV Smith, GD Evans, DM Karpe, F McCarthy, MI Danesh, J Franks, PW Timpson, NJ |
| author_sort | Corbin, LJ |
| collection | OXFORD |
| 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. |
| first_indexed | 2024-03-07T03:23:51Z |
| format | Journal article |
| id | oxford-uuid:b85a7a30-7b37-4106-a0e9-f52d769a0a64 |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-07T03:23:51Z |
| publishDate | 2018 |
| publisher | Nature Publishing Group |
| record_format | dspace |
| spelling | oxford-uuid:b85a7a30-7b37-4106-a0e9-f52d769a0a642022-03-27T04:55:33ZFormalising recall by genotype as an efficient approach to detailed phenotyping and causal inference.Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:b85a7a30-7b37-4106-a0e9-f52d769a0a64EnglishSymplectic Elements at OxfordNature Publishing Group2018Corbin, LJTan, VYHughes, DAWade, KHPaul, DSTansey, KEButcher, FDudbridge, FHowson, JMJallow, MWJohn, CKingston, NLindgren, CMO'Donavan, MO'Rahilly, SOwen, MJPalmer, CNAPearson, ERScott, RADA van HeelWhittaker, JFrayling, TTobin, MDWain, LVSmith, GDEvans, DMKarpe, FMcCarthy, MIDanesh, JFranks, PWTimpson, NJDetailed 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. |
| spellingShingle | Corbin, LJ Tan, VY Hughes, DA Wade, KH Paul, DS Tansey, KE Butcher, F Dudbridge, F Howson, JM Jallow, MW John, C Kingston, N Lindgren, CM O'Donavan, M O'Rahilly, S Owen, MJ Palmer, CNA Pearson, ER Scott, RA DA van Heel Whittaker, J Frayling, T Tobin, MD Wain, LV Smith, GD Evans, DM Karpe, F McCarthy, MI Danesh, J Franks, PW Timpson, NJ 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 |
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