SV-AUTOPILOT: optimized automated construction of structural variation discovery and benchmarking pipelines

摘要

BackgroundMany tools exist to predict structural variants (SVs), utilizing a variety of algorithms. However, they have largely been developed and tested on human germline or somatic (e.g. cancer) variation. It seems appropriate to exploit this wealth of technology available for humans also for other species. Objectives of this work included: class="enumerated" style="list-style-type:lower-alpha">Creating an automated, standardized pipeline for SV prediction.Identifying the best tool(s) for SV prediction through benchmarking.Providing a statistically sound method for merging SV calls.