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Evaluating the contribution of rare variants to type 2 diabetes and related traits using pedigrees

Abstract:

A major challenge in evaluating the contribution of rare variants to complex disease is identifying enough copies of the rare alleles to permit informative statistical analysis. To investigate the contribution of rare variants to the risk of type 2 diabetes (T2D) and related traits, we performed deep whole-genome analysis of 1,034 members of 20 large Mexican-American families with high prevalence of T2D. If rare variants of large effect accounted for much of the diabetes risk in these familie...

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

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Publisher copy:
10.1073/pnas.1705859115

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Role:
Author
ORCID:
0000-0003-0891-0204
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Grant:
HEALTH-F4-2007-201413
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Grant:
090367, 090532, 098381
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Grant:
RC2-DK08839, DK105535, DK085524, DK085545, DK085584, DK085501, DK098032, DK078616, DK085526
Publisher:
National Academy of Sciences Publisher's website
Journal:
Proceedings of the National Academy of Sciences Journal website
Volume:
115
Issue:
2
Pages:
379-384
Publication date:
2018-01-09
Acceptance date:
2017-11-28
DOI:
EISSN:
1091-6490
ISSN:
0027-8424
Pubs id:
pubs:813025
URN:
uri:581a648c-d8bc-4c1f-9c8a-b212e9d6c747
UUID:
uuid:581a648c-d8bc-4c1f-9c8a-b212e9d6c747
Local pid:
pubs:813025
Language:
English
Keywords:

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