Powerful extreme phenotype sampling designs and score tests for genetic association studies
نویسندگان
چکیده
منابع مشابه
Two-Stage sampling designs for gene association studies.
We consider two-stage case-control designs for testing associations between single nucleotide polymorphisms (SNPs) and disease, in which a subsample of subjects is used to select a panel of "tagging" SNPs that will be considered in the main study. We propose a pseudolikelihood [Pepe and Flemming, 1991: JASA 86:108-113] that combines the information from both the main study and the substudy to t...
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In the increasing number of sequencing studies aimed at identifying rare variants associated with complex traits, the power of the test can be improved by guided sampling procedures. We confirm both analytically and numerically that sampling individuals with extreme phenotypes can enrich the presence of causal rare variants and can therefore lead to an increase in power compared to random sampl...
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The ultimate goal of genome-wide association (GWA) studies is to identify genetic variants contributing effects to complex phenotypes in order to improve our understanding of the biological architecture underlying the trait. One approach to allow us to meet this challenge is to consider more refined sub-phenotypes of disease, defined by pattern of symptoms, for example, which may be physiologic...
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There are several well-known single SNP tests presented in the literature for detecting gene-disease association signals. Having in place an efficient and robust testing process across all genetic models would allow a more comprehensive approach to analysis. Although some studies have shown that it is possible to construct such a test when the variants are common and the genetic model satisfies...
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Correlation among multiple complex traits has been believed to have a significant impact on genetic association testing. However, such correlation is difficult to account for in both genetic association studies and statistical methodologies. For complex diseases, especially mental illnesses and behavioral disorders, the traits are often measured on an ordinal scale. Although proportional odds l...
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ژورنال
عنوان ژورنال: Statistics in Medicine
سال: 2018
ISSN: 0277-6715
DOI: 10.1002/sim.7914