Additional file 1: of PSE-HMM: genome-wide CNV detection from NGS data using an HMM with Position-Specific Emission probabilities

Abstract

Section S.2 of this additional file provides a detailed description for the parameter estimation in PSE-HMM. In section S.3, the effect of segment size on the performance of the PSE-HMM is investigated. In section S.4, sensitivity of the prediction accuracies to the genome-wide CNV percentage is analyzed. Section S.5 describes the overlap of PSE-HMM’s deletion calls against CNVs which are detected in [30]. Moreover, robustness of PSE-HMM to deviations from the assumption of normality in the insertion size distribution is investigated in section S.6. (DOCX 296 kb