ERDS-pe: A paired hidden Markov model for copy number variant detection from whole-exome sequencing data

Abstract

Detecting copy number variants (CNVs) is an essential part in variant calling process. Here, we describe a novel method ERDS-pe to detect CNVs from whole-exome sequencing (WES) data. ERDS-pe first employs principal component analysis to normalize WES data. Then, ERDS-pe incorporates read depth signal and single-nucleotide variation information together as a hybrid signal into a paired hidden Markov model to infer CNVs from WES data. Experimental results on real human WES data show that ERDS-pe demonstrates higher sensitivity and provides comparable or even better specificity than other tools. ERDS-pe is publicly available at: https://github.com/microtan0902/erds-pe.