LargeDEL: A tool for identifying large deletions in the whole genome sequencing data

摘要

DNA deletions are one of the main genetic reasons of disease. Currently there are many tools which are capable of detecting structural variations. However, these tools usually require long running time and lack ease of use. It is generally not possible to restrict the search to a region of interest. The programs also yield excessive number of results which obstructs further analysis. In this work, we present LargeDEL, a tool which quickly scans aligned paired-end next generation sequencing (NGS) data for finding large deletions. The program is capable of extracting the candidate deletions according to desired criteria. It is a fast, easy to use tool for finding large deletions within the critical regions in the whole genome.