Category Archives: Uncategorized

Automating & Standardizing Your NGS Workflow

As our regular customers may know, we write our blogs to provide relevant content to any NGS-based analysis with VarSeq. Our goal here at Golden Helix is to provide top quality software and guidance on how to use the software efficiently to perform variant analysis. However, this blog series will take a more general perspective and supply some insight into… Read more »

Optimizing your CNV Analysis in VSWarehouse

VSWarehouse Updates

We recently hosted a webcast covering the value and application of VSWarehouse through VarSeq. Not only is VSWarehouse a solution for storing your NGS data in a central repository, but it also provides a means to enhance the tertiary analysis done in VarSeq. VSWarehouse will store all your sample/variant data but also stores your catalogs of pathogenic variants, clinical reports, and has the capability of filtering/querying on all your stored data quickly. In addition,… Read more »

Using the GRCh38 reference assembly for clinical interpretation in VSClinical: Webcast Q&A

This webcast generated some great questions! If you have any other questions for me that are not answered below, please feel free to ask those by emailing support@goldenhelix.com. Does VSClinical come with support for the new reference genome? Yes! We worked hard to make everything work in VSClinical regardless of your choice of reference genomes. The only caveat is that… Read more »

Annotation Education Series: Cancer Annotations

CIViC The Clinical Interpretations of Variants in Cancer, better known as CIViC, is an open access open source, community-driven web resource available to all VarSeq users. Nature Genetics published an article that states, “CIViC accepts public knowledge contributions but requires that experts review these submissions”. Fundamentally, the focus behind CIViC is to make sure the variants contained in the database… Read more »

Golden Helix, Inc. – Your Annotation Curation Station

The current reduced cost and increase availability of genome sequencing has been making academics, clinicians and individuals alike excited with the possibility of increased research depth, diagnosing capability and personal curiosity. And although a freshly sequenced genome is chock-full of tasty letter snippets, the real revelation and education occurs when comparing to an annotation foundation. In this post, I’ll review… Read more »