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Analysis of protein-coding genetic variation in 60,706 humans.

Abstract:

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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Publisher copy:
10.1038/nature19057

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Funding agency for:
McCarthy, M
Grant:
U01-DK085545
More from this funder
Funding agency for:
McCarthy, M
Grant:
U01-DK085545
More from this funder
Funding agency for:
McCarthy, M
Grant:
U01-DK085545
More from this funder
Funding agency for:
McCarthy, M
Grant:
U01-DK085545
Mexican National Council of Science and Technology More from this funder
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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:
1476-4687 and 0028-0836
Pmid:
27535533
Source identifiers:
640477
Language:
English
Keywords:
Pubs id:
pubs:640477
UUID:
uuid:38e5b2f5-0599-401b-b203-8c72e5e2dba8
Local pid:
pubs:640477
Deposit date:
2016-11-02

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