CONY: A Bayesian procedure for detecting copy number variations from sequencing read depths

Abstract

Copy number variations (CNVs) are genomic structural mutations consisting of abnormal numbers of fragment copies. Next-generation sequencing of read-depth signals mirrors these variants. Some tools used to predict CNVs by depth have been published, but most of these tools can be applied to only a specific data type due to modeling limitations. We develop a tool for co py n umber variation detection by a Ba y esian procedure, i.e., CONY, that adopts a Bayesian hierarchical model and an efficient reversible-jump Markov chain Monte Carlo inference algorithm for whole genome sequencing of read-depth data. CONY can be applied not only to individual samples for estimating the absolute number of copies but also to case-control pairs for detecting patient-specific variations. We evaluate the performance of CONY and compare CONY with competing approaches through simulations and by using experimental data from the 1000 Genomes Project. CONY outperforms the other methods in terms of accuracy in both single-sample and paired-samples analyses. In addition, CONY performs well regardless of whether the data coverage is high or low. CONY is useful for detecting both absolute and relative CNVs from read-depth data sequences. The package is available at https://github.com/weiyuchung/CONY.