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Formalising recall by genotype as an efficient approach to detailed phenotyping and causal inference.

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...

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Publication status:
Published
Peer review status:
Peer reviewed
Version:
Publisher's version

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Publisher copy:
10.1038/s41467-018-03109-y

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ORCID:
0000-0002-4032-9500
Hughes, DA More by this author
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ORCID:
0000-0002-8230-0116
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Publisher:
Nature Publishing Group Publisher's website
Journal:
Nature Communications Journal website
Volume:
9
Issue:
1
Pages:
711
Publication date:
2018-02-05
Acceptance date:
2018-01-19
DOI:
EISSN:
2041-1723
Pubs id:
pubs:825654
URN:
uri:b85a7a30-7b37-4106-a0e9-f52d769a0a64
UUID:
uuid:b85a7a30-7b37-4106-a0e9-f52d769a0a64
Local pid:
pubs:825654
Language:
English
Keywords:

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