ICopyDAV: Integrated platform for copy number variations-Detection, annotation and visualization.

ABSTRACT: Discovery of copy number variations (CNVs), a major category of structural variations, have dramatically changed our understanding of differences between individuals and provide an alternate paradigm for the genetic basis of human diseases. CNVs include both copy gain and copy loss events and their detection genome-wide is now possible using high-throughput, low-cost next generation sequencing (NGS) methods. However, accurate detection of CNVs from NGS data is not straightforward due to non-uniform coverage of reads resulting from various systemic biases. We have developed an integrated platform, iCopyDAV, to handle some of these issues in CNV detection in whole genome NGS data. It has a modular framework comprising five major modules: data pre-treatment, segmentation, variant calling, ann

SUBMITTER: Dharanipragada P 

PROVIDER: S-EPMC5886540 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature