Comparing Variant Call Files for Performance Benchmarking of Next-Generation Sequencing Variant Calling Pipelines
John G. Cleary, Ross Braithwaite, Kurt Gaastra, Brian S. Hilbush, Stuart Inglis, Sean A. Irvine, Alan Jackson, Richard Littin, Mehul Rathod, David Ware, Justin M. Zook, Len Trigg, Francisco M. De La Vega
The paper develops a novel algorithm to accurately compare variant call files by addressing representation discrepancies in VCF data, enabling reliable performance benchmarking of variant calling pipelines.
bioRxiv · Aug 3, 2015 · PreprintBioinformatics