STEAK: A specific tool for transposable elements and retrovirus detection in high-throughput sequencing data.

ABSTRACT: The advancements of high-throughput genomics have unveiled much about the human genome highlighting the importance of variations between individuals and their contribution to disease. Even though numerous software have been developed to make sense of large genomics datasets, a major short falling of these has been the inability to cope with repetitive regions, specifically to validate structural variants and accordingly assess their role in disease. Here we describe our program STEAK, a massively parallel software designed to detect chimeric reads in high-throughput sequencing data for a broad number of applications such as identifying presence/absence, as well as discovery of transposable elements (TEs), and retroviral integrations. We highlight the capabilities of STEAK by

SUBMITTER: Santander CG 

PROVIDER: S-EPMC5597868 | biostudies-literature | 2017 Jul

REPOSITORIES: biostudies-literature