Category Archives: Big picture

Future Direction of Golden Helix

      Andreas Scherer    September 19, 2018    No Comments on Future Direction of Golden Helix

Celebrating our 20th Anniversary on September 15th, we took some time to reflect on the last two decades in this industry. Two decades of learning, adaption, and growth on the business side as well as the personal side. Employees began their careers with us, made new friends and started their own families. These past 20 years are full of stories… Read more »

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 »

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 »

Bring the Value of VS-CNV to Genomic Research in SVS

Eigenvalue Decomposition

The Golden Helix SNP & Variation Suite (SVS) platform is a powerful and versatile set of tools and algorithms for performing genomic research. That research spans from data originating on genotype micro-arrays to next-generation sequencing. While the majority of SVS users start with genotype data on their samples, any genomic information across a cohort can be used in our various… Read more »

Secondary Analysis 2.0 eBook

      Andreas Scherer    September 5, 2017    No Comments on Secondary Analysis 2.0 eBook

Next-Gen Sequencing promised to be the ultimate paradigm when it comes to genetic research and clinical testing since it contains the complete genetic information. When it comes to the current reality in testing labs, there are still a number of additional testing paradigms used in an analysis, specifically, copy number variations. Among these, labs still widely use Chromosomal Microarrays and… Read more »