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Assessing association between protein truncating variants and quantitative traits.

Abstract:

Motivation: In sequencing studies of common diseases and quantitative traits, power to test rare and low frequency variants individually is weak. To improve power, a common approach is to combine statistical evidence from several genetic variants in a region. Major challenges are how to do the combining and which statistical framework to use.

General approaches for testing association between rare variants and quantitative traits include aggregating genotypes and tr...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1093/bioinformatics/btt409

Authors


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Institution:
University of Oxford
Division:
MSD
Department:
NDM
Sub department:
Human Genetics Wt Centre
Role:
Author
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
NDM
Sub department:
Human Genetics Wt Centre
Role:
Author
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
RDM
Sub department:
OCDEM
Role:
Author
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
NDM
Sub department:
Human Genetics Wt Centre
Role:
Author
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
NDM
Sub department:
Human Genetics Wt Centre
Role:
Author
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More from this funder
Funding agency for:
Rivas, M
More from this funder
Funding agency for:
Pirinen, M
Grant:
2576545
More from this funder
Funding agency for:
Lindgren, C
Grant:
086596/Z/08/Z
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Publisher:
Oxford University Press Publisher's website
Journal:
Bioinformatics (Oxford, England) Journal website
Volume:
29
Issue:
19
Pages:
2419-2426
Publication date:
2013-10-01
DOI:
EISSN:
1367-4811
ISSN:
1367-4803
Source identifiers:
414507
Language:
English
Keywords:
UUID:
uuid:4222e888-0c9d-4c15-8782-6412605c44a9
Local pid:
pubs:414507
Deposit date:
2013-11-16

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