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

Leung, Wai Yi ; Marschall, Tobias ; Paudel, Yogesh ; Falquet, Laurent ; Mei, Hailiang ; Schönhuth, Alexander ; Maoz, Tiffanie Yael

In: BMC Genomics, 2016, vol. 16, p. 238

Many 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: a) Creating an automated, standardized pipeline for SV...