A0607
Title: Fine-mapping gene-based associations via knockoff analysis of biobank-scale data
Authors: Shiyang Ma - Shanghai Jiao Tong University School of Medicine (China) [presenting]
Abstract: Gene-based tests are important tools for elucidating the genetic basis of complex traits. Despite substantial recent efforts in this direction, the existing tests are still limited owing to low power and detection of false positive signals due to the confounding effects of linkage disequilibrium and co-regulation. BIGKnock (BIobank-scale Gene-based association test via Knockoffs) is proposed, a computationally efficient gene-based testing approach for biobank-scale data that leverages long-range chromatin interaction data and performs conditional genome-wide testing via knockoffs. BIGKnock can prioritize causal genes over proxy associations at a locus. BIGKnock is applied to the UK Biobank data with 405,296 participants for multiple binary and quantitative traits and shows that relative to conventional gene-based tests, BIGKnock produces smaller sets of significant genes that contain the causal gene(s) with high probability.
