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Detecting genome-wide directional effects of transcription factor binding on polygenic disease risk

Abstract:

Biological interpretation of genome-wide association study data frequently involves assessing whether SNPs linked to a biological process, for example, binding of a transcription factor, show unsigned enrichment for disease signal. However, signed annotations quantifying whether each SNP allele promotes or hinders the biological process can enable stronger statements about disease mechanism. We introduce a method, signed linkage disequilibrium profile regression, for detecting genome-wide dir...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1038/s41588-018-0196-7

Authors


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National Science Foundation More from this funder
Publisher:
Nature Publishing Group Publisher's website
Journal:
Nature Genetics Journal website
Volume:
50
Issue:
9
Pages:
1483–1493
Publication date:
2018-09-03
Acceptance date:
2018-07-11
DOI:
EISSN:
1546-1718
ISSN:
1061-4036
Source identifiers:
868025
Pubs id:
pubs:868025
UUID:
uuid:ad924b53-5b3b-4389-ae19-5ef076afa4ff
Local pid:
pubs:868025
Deposit date:
2018-07-12

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