InCNV: An Integrated Analysis Tool for Copy Number Variation on Whole Exome Sequencing.

ABSTRACT: The detection of copy number variations (CNVs) on whole-exome sequencing (WES) represents a cost-effective technique for the study of genetic variants. This approach, however, has encountered an obstacle with high false-positive rates due to biases from exome sequencing capture kits and GC contents. Although plenty of CNV detection tools have been developed, they do not perform well with all types of CNVs. In addition, most tools lack features of genetic annotation, CNV visualization, and flexible installation, requiring users to put much effort into CNV interpretation. Here, we present "inCNV," a web-based application that can accept multiple CNV-tool results, then integrate and prioritize them with user-friendly interfaces. This application helps users analyze the importance of called CN

SUBMITTER: Chanwigoon S 

PROVIDER: S-EPMC7520931 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature