VarSeq Stable 2.1.0 Release Notes

      Gabe Rudy    October 31, 2018    No Comments on VarSeq Stable 2.1.0 Release Notes

VarSeq Stable 2.1.0 is Ready for Clinical Validation, See it in Action Next Week

This week we are happy to see the general availability of VarSeq 2.1, the culmination of the last five months of work since we launched VSClinical. We have been blown away by the adoption of VSClinical, outpacing any previous product launch in terms of the pace of adoption by existing customers as well as new labs choosing the Golden Helix platform. As always, we foster a tight feedback loop between our users and our product team, and that means this release also includes many small polish improvements and a few big features to enable frequently requested workflows. 

With VarSeq 2.1.0 we have added the following new abilities: 

  • Add additional “consortium” sources of classified variants to the ACMG Auto Classifier and VSClinical recommendation engine to augment ClinVar 
  • Import CNVs into your VarSeq project from VCF or text sources, leveraging the powerful CNV annotation and reporting capabilities alongside your NGS variants 
  • LiftOver your VCFs from the GRCh37 to GRCh38 reference genomes on import (or the other way around). 

Use Stable Releases as Less Frequent Update Targets 

At Golden Helix, we balance our commitment to innovation with the needs of clinical labs to lock-down repeatable and validated analytical workflows with an at-your-convenience update model, the version-locked annotation and template system that VarSeq runs on and the punctuation of our release schedule with “stable” releases like this one.

Stable releases have version numbers that end in “.0” and focus less on new features and more on spending time tracking down every reported issue and hardening the software to be a great target for labs that want to only validate new software versions every year or so. 

In this release for example, we had reports of the web page display engine in VarSeq having issues running on specific machine configurations or with specific internal websites. Although we could not re-create these issues in our own controlled environment, we were able to confirm that moving to an updated web engine with more compatible runtime configurations resolved this issue. 

As you can see from our extensive release notes for VarSeq 2.1.0, we have made small improvements of this nature in nearly all parts of the product. From handling VCF files from more variant callers, to improved logging messages to quite a few usability improvements to VSClinical. 

See These Highlights and More in the Upcoming Webcast

Speaking of VSClinical, the best way to see the new capabilities in action is to sign up for the webcast I’ll be giving next week! I’ll cover the new integration of external “consortium” variant classifications as well as the smaller improvements such as the new PubMed search function. Finally, we will take a look at somatic variant interpretation with VarSeq and the data sources available interpret the clinical evidence for somatic variants.

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