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Using an atlas of gene regulation across 44 human tissues to inform complex disease- and trait-associated variation

Abstract:

We apply integrative approaches to expression quantitative loci (eQTLs) from 44 tissues from the Genotype-Tissue Expression project and genome-wide association study data. About 60% of known trait-associated loci are in linkage disequilibrium with a cis-eQTL, over half of which were not found in previous large-scale whole blood studies. Applying polygenic analyses to metabolic, cardiovascular, anthropometric, autoimmune, and neurodegenerative traits, we find that eQTLs are significantly enric...

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Publication status:
Published
Peer review status:
Peer reviewed
Version:
Accepted Manuscript

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Publisher copy:
10.1038/s41588-018-0154-4

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ORCID:
0000-0003-4204-8734
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ORCID:
0000-0001-6806-5845
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ORCID:
0000-0002-6744-6125
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Funding agency for:
McCarthy, MI
Publisher:
Nature Publishing Group Publisher's website
Journal:
Nature Genetics Journal website
Volume:
50
Issue:
7
Pages:
956-967
Publication date:
2018-06-28
Acceptance date:
2018-05-08
DOI:
EISSN:
1546-1718
ISSN:
1061-4036
Pubs id:
pubs:865087
URN:
uri:5cddb69b-0383-49aa-854a-9ad6f4f01c90
UUID:
uuid:5cddb69b-0383-49aa-854a-9ad6f4f01c90
Local pid:
pubs:865087

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