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Formalising recall by genotype as an efficient approach to detailed phenotyping and causal inference
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2018 (English)In: Nature Communications, ISSN 2041-1723, E-ISSN 2041-1723, Vol. 9, article id 711Article, review/survey (Refereed) Published
Abstract [en]

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.

Place, publisher, year, edition, pages
2018. Vol. 9, article id 711
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Medical Genetics
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URN: urn:nbn:se:umu:diva-145586DOI: 10.1038/s41467-018-03109-yISI: 000425382800003PubMedID: 29459775OAI: oai:DiVA.org:umu-145586DiVA, id: diva2:1193872
Available from: 2018-03-28 Created: 2018-03-28 Last updated: 2018-06-09Bibliographically approved

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Corbin, Laura J.Franks, Paul W.

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CiteExportLink to record
Permanent link

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Citation style
  • apa
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
  • text
  • asciidoc
  • rtf