Multiple Regression Methods Show Great Potential for Rare Variant Association Tests
نویسندگان
چکیده
منابع مشابه
Multiple Regression Methods Show Great Potential for Rare Variant Association Tests
The investigation of associations between rare genetic variants and diseases or phenotypes has two goals. Firstly, the identification of which genes or genomic regions are associated, and secondly, discrimination of associated variants from background noise within each region. Over the last few years, many new methods have been developed which associate genomic regions with phenotypes. However,...
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In association tests of sites with low minor allele frequency or count, it is known that single-variant tests are impractical to use because the results from which will be either underpowered or unreliable. Joint analyses by pooling or “collapsing” multiple variants based on annotated gene group information are thus more preferred in rare variant association tests. However, the issue remains in...
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With development of massively parallel sequencing technologies, there is a substantial need for developing powerful rare variant association tests. Common approaches include burden and non-burden tests. Burden tests assume all rare variants in the target region have effects on the phenotype in the same direction and of similar magnitude. The recently proposed sequence kernel association test (S...
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Genome-wide association studies have successfully identified many common variants associated with complex human diseases. However, a large portion of the remaining heritability cannot be explained by these common variants. Exploring rare variants associated with diseases is now catching more attention. Several methods have been recently proposed for identification of rare variants. Among them, ...
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BACKGROUND It has been repeatedly stressed that family-based samples suffer less from genetic heterogeneity and that association analyses with family-based samples are expected to be powerful for detecting susceptibility loci for rare disease. Various approaches for rare-variant analysis with family-based samples have been proposed. METHODS In this report, performances of the existing methods...
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ژورنال
عنوان ژورنال: PLoS ONE
سال: 2012
ISSN: 1932-6203
DOI: 10.1371/journal.pone.0041694