國家衛生研究院 NHRI:Item 3990099045/10988
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    题名: A powerful gene-based test accommodating common and low-frequency variants to detect both main effects and gene-gene interaction effects in case-control studies
    作者: Chung, RH;Kang, CY
    贡献者: Institute of Population Health Sciences
    摘要: Next-generation sequencing (NGS) has been widely used in genetic association studies to identify both common and rare variants associated with complex diseases. Various statistical association tests have been developed to analyze NGS data; however, most focus on identifying the marginal effects of a set of genetic variants on the disease. Only a few association tests for NGS data analysis have considered the interaction effects between genes. We developed three powerful gene-based gene-gene interaction tests for testing both the main effects and the interaction effects of common, low-frequency, and common with low-frequency variant pairs between two genes (the IGOF tests) in case-control studies using NGS data. We performed a comprehensive simulation study to verify that the proposed tests had appropriate type I error rates and significantly higher power than did other interaction tests for analyzing NGS data. The tests were applied to a whole-exome sequencing dataset for autism spectrum disorder (ASD) and the significant results were evaluated in another independent ASD cohort. The IGOF tests were implemented in C++ and are available at http://igof.sourceforge.net.
    日期: 2018-01
    關聯: Frontiers in Genetics. 2018 Jan;8:Article number 228.
    Link to: http://dx.doi.org/10.3389/fgene.2017.00228
    JIF/Ranking 2023: http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=NHRI&SrcApp=NHRI_IR&KeyISSN=1664-8021&DestApp=IC2JCR
    Cited Times(WOS): https://www.webofscience.com/wos/woscc/full-record/WOS:000419443300002
    Cited Times(Scopus): http://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&scp=85040511900
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