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Assessing the impact of missing genotype data in rare variant association analysis.

Abstract:

Human genome resequencing technologies are becoming ever more affordable and provide a valuable source of data about rare genetic variants in the human genome. Such rare variation may play an important role in explaining the missing heritability of complex human traits. We implement an existing method for analyzing rare variants by testing for association with the mutational load across genes. In this study, we make use of simulated data from the Genetic Analysis Workshop 17 to assess the pow...

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Publication status:
Published
Peer review status:
Peer reviewed
Version:
Publisher's version

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Publisher copy:
10.1186/1753-6561-5-s9-s107

Authors


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Institution:
University of Oxford
Department:
Oxford, MSD, Clinical Medicine, WTC Human Genetics
Role:
Author
More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, Clinical Medicine, WTC Human Genetics
Role:
Author
More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, Clinical Medicine, WTC Human Genetics
Role:
Author
More from this funder
Funding agency for:
Mägi, R
More from this funder
Funding agency for:
Morris, AP
Publisher:
BioMed Central Ltd. Publisher's website
Journal:
BMC Proceedings Journal website
Volume:
5
Issue:
Suppl 9
Pages:
Article: S107
Publication date:
2011-01-01
DOI:
EISSN:
1753-6561
ISSN:
1753-6561
URN:
uuid:ad7e46be-05d0-4ce5-9c6b-b12f6147c639
Source identifiers:
313019
Local pid:
pubs:313019

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