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Discovery of common and rare genetic risk variants for colorectal cancer

Abstract:

To further dissect the genetic architecture of colorectal cancer (CRC), we performed whole-genome sequencing of 1,439 cases and 720 controls, imputed discovered sequence variants and Haplotype Reference Consortium panel variants into genome-wide association study data, and tested for association in 34,869 cases and 29,051 controls. Findings were followed up in an additional 23,262 cases and 38,296 controls. We discovered a strongly protective 0.3% frequency variant signal at CHD1. In a combin...

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

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Publisher copy:
10.1038/s41588-018-0286-6

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ORCID:
0000-0001-6027-9806
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ORCID:
0000-0002-4173-7530
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ORCID:
0000-0003-3106-5643
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Publisher:
Springer Nature Publisher's website
Journal:
Nature Genetics Journal website
Volume:
51
Issue:
1
Pages:
76-87
Publication date:
2018-12-03
Acceptance date:
2018-10-22
DOI:
EISSN:
1546-1718
ISSN:
1061-4036
Pubs id:
pubs:950938
URN:
uri:a2cbe9a0-b6d5-4365-a126-10071a93c8b6
UUID:
uuid:a2cbe9a0-b6d5-4365-a126-10071a93c8b6
Local pid:
pubs:950938
Language:
English

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