Our End of Year Bundles Are Back!

In case you haven’t heard the big news … our end of year bundles are back by popular demand! There’s a little something for everyone so if you’ve had your eye on one of our products now is the time to buy! SVS Single-User License – $2,995 Wouldn’t it be great to be able to easily perform complex analyses and visualizations on… Read more »

Annotation Education Series: CNV Annotations

CNV Annotations

With the recent upgrade to VarSeq 1.4.7, users gain access to some new great features. Among the additions are new CNV annotations (Figure 1). In this final chapter of the annotation blog series, we are going to provide descriptions of the new CNV annotations and how they can be used. The types of CNV annotations vary and include frequency, clinical… Read more »

Reflecting on ASHG 2017

      Andreas Scherer    October 26, 2017    No Comments on Reflecting on ASHG 2017
ASHG 2017

We’ve returned from another successful year at ASHG and had an incredible time. I find the conference to be a terrific opportunity to connect with our customers, partners, and friends in the industry. This year’s Presidential Symposium was a true delight featuring a discussion of global health and genomics between two absolute legends in the health and science world: Bill Gates,… Read more »

Annotation Education Series: Frequency, Functional Prediction, and Gene Annotations

VarSeq annotations

In our final chapter of this variant annotation blog series, we will discuss additional annotations that provide powerful variant filtering and analysis capability. Golden Helix curates many annotations in a way that allows for simple analysis and saves the users the hassle of all this data management. Whether you are trying to capture rare variants known across multiple subpopulations in… Read more »

VarSeq Updated with CNV Annotations, CNV PhoRank and Region Assessment Catalogs

VarSeq Updated

VarSeq Updated with CNV Annotations, CNV PhoRank and Region Assessment Catalogs This year we have released multiple advances to support CNV analysis in VarSeq, expanding our target region based VS-CNV caller to handle exomes and low-depth genomes as well additional supporting algorithms like calling Loss of Heterozygosity regions. To top this off, VarSeq 1.4.7 has been shipped with many expanded… Read more »