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The impact of rare variation on gene expression across tissues

Abstract:

Rare genetic variants are abundant in humans and are expected to contribute to individual disease risk. While genetic association studies have successfully identified common genetic variants associated with susceptibility, these studies are not practical for identifying rare variants. Efforts to distinguish pathogenic variants from benign rare variants have leveraged the genetic code to identify deleterious protein-coding alleles, but no analogous code exists for non-coding variants. Therefor...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1038/nature24267

Authors


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Name:
National Institutes of Health
Grant:
HHSN261200800001C
More from this funder
Name:
National Science Foundation
Publisher:
Nature Publishing Group
Journal:
Nature More from this journal
Volume:
550
Issue:
7675
Pages:
239-243
Publication date:
2017-10-11
Acceptance date:
2017-09-13
DOI:
EISSN:
1476-4687
ISSN:
0028-0836
Pmid:
29022581

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