Journal article
Analysis of protein-coding genetic variation in 60,706 humans.
- Abstract:
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Large-scale reference data sets of human genetic variation are critical for the medical and functional interpretation of DNA sequence changes. Here we describe the aggregation and analysis of high-quality exome (protein-coding region) sequence data for 60,706 individuals of diverse ethnicities generated as part of the Exome Aggregation Consortium (ExAC). The resulting catalogue of human genetic diversity contains an average of one variant every eight bases of the exome, and provides direct ev...
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- Publication status:
- Published
- Peer review status:
- Peer reviewed
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(Version of record, pdf, 1.6MB)
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- Publisher copy:
- 10.1038/nature19057
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Authors
Funding
+ National Institute for Health Research
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Funding agency for:
McCarthy, M
Grant:
U01-DK085545
+ Seventh Framework Programme
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Funding agency for:
McCarthy, M
Grant:
U01-DK085545
+ National Institutes of Health
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Funding agency for:
McCarthy, M
Grant:
U01-DK085545
Mexican National Council of Science and Technology
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Bibliographic Details
- Publisher:
- Nature Publishing Group Publisher's website
- Journal:
- Nature Journal website
- Volume:
- 536
- Issue:
- 7616
- Pages:
- 285-291
- Publication date:
- 2016-08-01
- Acceptance date:
- 2016-06-24
- DOI:
- ISSN:
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1476-4687 and 0028-0836
- Pmid:
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27535533
- Source identifiers:
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640477
Item Description
- Language:
- English
- Keywords:
- Pubs id:
-
pubs:640477
- UUID:
-
uuid:38e5b2f5-0599-401b-b203-8c72e5e2dba8
- Local pid:
- pubs:640477
- Deposit date:
- 2016-11-02
Terms of use
- Copyright holder:
- Watkins et al
- Copyright date:
- 2016
- Notes:
- This work is licensed under a Creative Commons Attribution 4.0 International (CC BY 4.0) licence. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons licence, users will need to obtain permission from the licence holder to reproduce the material. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.
- Licence:
- CC Attribution (CC BY)
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