SV-HotSpot: detection and visualization of hotspots targeted by structural variants associated with gene expression.

ABSTRACT: Whole genome sequencing (WGS) has enabled the discovery of genomic structural variants (SVs), including those targeting intergenic and intronic non-coding regions that eluded previous exome focused strategies. However, the field currently lacks an automated tool that analyzes SV candidates to identify recurrent SVs and their targeted sites (hotspot regions), visualizes these genomic events within the context of various functional elements, and evaluates their potential effect on gene expression. To address this, we developed SV-HotSpot, an automated tool that integrates SV candidates, copy number alterations, gene expression, and genome annotations (e.g. gene and regulatory elements) to discover, annotate, and visualize recurrent SVs and their targeted hotspot regions that may affect gene

SUBMITTER: Eteleeb AM 

PROVIDER: S-EPMC7522247 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature