Title: A Bayesian algorithm for case-control association study with copy number variation
Authors: Yu-Chung Wei - Feng Chia University (Taiwan) [presenting]
Abstract: Copy number variations (CNVs) are genomic mutations consisting of abnormal numbers of gene fragment copies. Current algorithms for CNV association study for whole genome sequencing are restricted to a specific size or common/rare CNVs. We propose a Bayesian marker-level testing procedure to detect disease-associated CNVs. First, the absolute copy number of each window is estimated from sequencing read depths for every sample. And then the absolute copy numbers from case and control are compared to select candidate disease-associated windows. Finally, the information from neighboring windows is combined to identify the disease-associated copy number regions. We evaluate the performance and compare with competing approaches via simulations and real data.