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Activity Number: 237 - SPEED:Statistical Methods for GWAs, Genetics, Genomics, and Other Omics Studies, Part 1
Type: Contributed
Date/Time: Monday, July 29, 2019 : 2:00 PM to 3:50 PM
Sponsor: International Chinese Statistical Association
Abstract #301809
Title: An Integrative Analysis of DNA Copy Number and SNP Markers to Localize Causal Gene Region
Author(s): Qi You Yu* and Chuhsing Kate Hsiao and Tzu-Pin Lu and Jung-Ying Tzeng and Tzu-Hung Hsiao and Ching-Heng Lin
Companies: National Taiwan University and Institute of Epidemiology and Preventive Medicine, National Taiwan University, Taiwan and Institute of Epidemiology and Preventive Medicine, National Taiwan University, Taiwan and North Carolina State University and Taichung Veterans General Hospital, Taiwan and Taichung Veterans General Hospital, Taiwan
Keywords: SNP; CNV; integrative analysis; Taiwan Biobank; LDL-C; TG

With the fast progress in sequencing technologies, multiple levels of genomic data can now be obtained from a single set of samples. The data sizes increase dramatically while considering of various types of genetic variants simultaneously. An integrative analysis therefore is required to deal with the high-dimensionality and complex relationships among markers within and across platforms. Previous integrative analyses usually identify genes purely based on one single platform, and union or intersect the results without considering the dependence among markers. To address this issue, a novel pipeline is proposed to integrate SNP and CNV data. In the first, an association test is used to identify significant genes. Subsequently, a moving window analysis is utilized to pinpoint the causal gene regions. In addition, this pipeline was applied in two real studies including low density of lipoprotein cholesterol (LDL-C) and triglyceride (TG) data from Taiwan Biobank. In conclusion, these results demonstrate that the proposed integrated method is able to identify important causal genes, especially those genes that have not been reported previously by using the naïve method.

Authors who are presenting talks have a * after their name.

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