RTG Tools (original) (raw)

Over the years one of the more valuable tools we've developed for internal testing and development purposes is an accurate and efficient way to compare genotypes from multiple VCFs for a set of individuals. In particular, our tool, vcfeval, is capable of dealing with differences in representation that can arise in complex situations or when comparing variants produced by different callers (more details are in this presentation on slideshare or this detailed publication). To date, no other tool is capable of performing this analysis as accurately as RTG vcfeval. Through our collaborations we have found this tool to be highly useful outside of RTG and have been asked to make it more widely available.

One of our core values is giving back to the community, so we have put the utilities for VCF comparison, filtering, and other manipulation that are found in our other products into RTG Tools, which we are making freely available. As well as the precompiled packages below, source code is available on github under the Simplified BSD License.

If you have any problems or questions, there is now a general discussion group that you may wish to join and an announcements only group where you can be notified of new releases.