Clinical Variant Interpretation: Part IV

VSClinical algorithm

In the last installment of this series, I covered the basics of variant interpretation and how it fits into the genomic testing process. Now we can cover in more detail how VSClinical works, what algorithms and annotation sources power the recommendations and how the ACMG criteria are organized into useful categories. VSClinical is built to make the process of evaluating… Read more »

VSClinical Webcast Q&A

      Gabe Rudy    April 20, 2018    No Comments on VSClinical Webcast Q&A

This week we launched VSClincial with our first webcast to show our powerful new way to perform variant interpretation following the ACMG guidelines. Our audience asked a lot of great questions on the new product and I’d like to highlight a few here. Can VSClinical run on a laptop and/or a locked down environment? Like all of Golden Helix products, you have… Read more »

Clinical Variant Interpretation: Part III

VCF file format

Yesterday we launched VSClincial with our first webcast in what will be a series about this powerful new way to perform variant interpretation following the ACMG guidelines. In this post, I wanted to cover the motivation for VSClinical and how we curated and presented the 33 criteria from the ACMG Guidelines into an intuitive workflow with various bioinformatic evidence and… Read more »

Clinical Variant Interpretation Based on ACMG Guidelines – Part II

VarSeq annotations

We just came back from ACMG in North Carolina where we launched our new product VSClinical. The reception has been terrific and our booth has never been as frequented. We had record level visitors and demo presentations. So, what is all that buzz about this new product? Why do people care so much and how does it help a clinical… Read more »

See you at ACMG 2018

      Delaina Hawkins    April 9, 2018    No Comments on See you at ACMG 2018
ACMG

We’re looking forward to seeing you all at the ACMG 2018. This year the Golden Helix Team will be represented by President & CEO, Andreas Scherer, Senior Product Engineer, Nathan Fortier, and myself, Marketing Manager, Delaina Hawkins. Make sure to stop by and say hello! You can find Golden Helix in booth #1306: We’ve put together a series of quick, in-booth demos… Read more »