PrecisionFDA community platform using RTG Tools for variant benchmarking

March 09, 2016

At Real Time Genomics we have been working with industry leading groups to raise the awareness that commonly used techniques for comparing variant call sets fail to correctly identify equivalent variants in many cases. For several years, the vcfeval tool that is part of our products has been leading the field in providing accurate variant set comparisons. Recently, the FDA has put together a community platform, precisionFDA, for NGS assay evaluation and regulatory science exploration. Central to this platform is the idea of accurate call-set comparison, so they selected vcfeval from RTG Tools to perform the comparisons. A nice discussion of vcfeval is included in this article describing the recently announced precisionFDA Consistency Challenge.

If you want to run vcfeval in-house, see our product page for RTG Tools (and of course vcfeval is include as part of our full analysis suite, RTG Core)