國家衛生研究院 NHRI:Item 3990099045/10204
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    Please use this identifier to cite or link to this item: http://ir.nhri.org.tw/handle/3990099045/10204


    Title: A combined association test for rare variants using family and case-control data
    Authors: Lin, PL;Tsai, WY;Chung, RH
    Contributors: Division of Biostatistics and Bioinformatics
    Abstract: Statistical association tests for rare variants can be classified as the burden approach and the sequence kernel association test (SKAT) approach. The burden and SKAT approaches, originally developed for case-control analysis, have also been extended to family-based tests. In the presence of both case-control and family data for a study, joint analysis for the combined data set can increase the statistical power. We extended the Combined Association in the Presence of Linkage (CAPL) test, using both case-control and family data for testing common variants, to rare variant association analysis. The burden and SKAT algorithms were applied to the CAPL test. We used simulations to verify that the CAPL tests incorporating the burden and SKAT algorithms have correct type I error rates. Power studies suggested that both tests have adequate power to identify rare variants associated with the disease. We applied the tests to the Genetic Analysis Workshop 19 data set using the combined family and case-control data for hypertension. The analysis identified several candidate genes for hypertension.
    Date: 2016-10-18
    Relation: BMC Proceedings. 2016 Oct 18;10(Suppl. 7):Article number 33.
    Link to: http://dx.doi.org/10.1186/s12919-016-0033-x
    Cited Times(Scopus): https://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&scp=85016063372
    Appears in Collections:[Ren-Hua Chung] Periodical Articles

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