As our team returns from another successful ASHG conference, I would like to reflect on the great memories, connections, and future plans that were made at this meeting. First, I will start by thanking everyone involved with the superb planning and execution of the conference. We are thankful to have this opportunity to connect with our customers, partners, and friends in the genetics industry.
Golden Helix Featured in GEN Magazine
This year’s conference coincided with an article I wrote for GEN Magazine, which was distributed at the meeting. My piece titled “Clinical Variant Analysis for Cancer” (page 20) discusses the current state of molecular cancer diagnostics and the reasons it is time to embrace software-aided decision making. If you are interested in reading this piece, you can access the online version on the GEN website below:
VSClinical Steals the Show
The star of our show was VSClinical, our clinical analytics platform, which allows for the interpretation of variants based on ACMG & AMP Guidelines. We held a number of in-booth demos showcasing this product, which sparked a staggering amount of interest bringing in crowds like the photo below.
Golden Helix Presents at Several CoLab Sessions
Golden Helix Director of Research, Nathan Fortier, Ph.D., and myself, Golden Helix President & CEO, Andreas Scherer, Ph.D., presented at two CoLab Sessions which was another highlight for the conference. Both presentations were very well attended, and I would like to thank everyone who joined us for these talks.
Our first talk was “Fine-tuning CNV Analysis for the Clinical Analysis of NGS Samples”. Copy Number Variations (CNVs) are associated with a variety of genetic disorders, including autoimmune diseases, autism, and cancer. We have developed an industry-leading CNV calling solution, VS-CNV, which enables clinicians and researchers to detect CNVs ranging from small single exon events to large chromosomal deletions and duplications, removing the need for additional assays such as MLPA. The solution also allows clinicians to annotate CNVs against a wide array of useful data sources and perform filtering based on these annotations to obtain a small set of clinically relevant variations.
In this talk, we focused on the application of these various CNV annotations for filtering false positive and clinically irrelevant CNVs. We also included a discussion of CNV interpretation in accordance with the AMP guidelines for the interpretation of somatic variants.
Our second talk was “Clinical Variant Analysis: Applying the AMP & ACMG Guidelines in the Clinical Practice”. VSClinical enables the interpretation of both somatic and germline variants following the AMP & ACMG Guidelines, respectively. By incorporating new algorithms and annotation sources, detailed variant scoring, classification, and interpretation can occur right within VarSeq without the need for additional, external tools or resources. These capabilities are designed to improved throughput while allowing the lab to maintain consistent quality.
Our Infamous T-Shirts
Of course, we cannot go without mentioning the continued popularity of our t-shirts! Our new t-shirt designs were released at this year’s ASHG conference, and judging by how quickly we ran out, I would say they were a hit!
To wrap it all up, we had an incredible time being a part of this year’s ASHG conference. It was great connecting with you all, and we look forward to seeing you in San Diego, California next year for #ASHG20!