Our team has returned from the annual meeting of the Association of Molecular Pathology (AMP 2019), and, as always, I am grateful for all the wonderful experiences we are bringing back with us. The plenary sessions and talks were bountiful, and we were very impressed with the well-organized exhibition. Hats off to everyone involved in planning this great event!

Innovation Spotlight Talks

Golden Helix VP of Product & Engineering, Gabe Rudy and I, Golden Helix President & CEO, Ph.D., had the pleasure of presenting two Innovation Spotlight Talks this year which were very well received, bringing in over 100 attendees each.

Our first talk was “Fine-tuning CNV Analysis for the Clinical Analysis of NGS Samples” where we focused on the application of 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. In this talk, we highlighted these powerful capabilities:

• Streamline germline variant interpretation using the ACMG scoring guidelines with automatic criteria recommendations and incorporated historical data
• Quickly determine the oncogenicity of somatic mutations using our automated oncogenicity scoring system
• Apply the AMP Tiers to the available clinical evidence for Drug Sensitivity, Drug Response, Prognostics and Diagnostics
• Develop a lab-specific knowledgebase of interpretations that allow maximum re-use of interpretations and descriptions from one patient to the next
• Leverage the built-in Golden Helix CancerKB interpretation knowledgebase that covers many common genes and biomarkers
• Finalize your interpretation for a sample and compose the clinical report with the classified variants and their interpretation

Booth Events

Over at our booth, our demo schedule brought in a number of new and familiar faces to learn more about the different areas of our clinical stack. There were lots of questions about our CNV and AMP Workflow solutions and value the opportunity these conferences give us to answer your questions in person.

AMP 2019 coincided with our recent release of VarSeq 2.2.0, full of upgrades and polishes to these products. Some of the newer features include the ability to store and include AMP Cancer assessment catalogs on VSWarehouse, quicker accessibility to common annotations plotted in GenomeBrowse, and the addition of all of our standard templates for the GRCh38 genome assembly. You can read more about this stable release on our recent blog post here.

Again, I would like to thank everyone who attended our talks or stopped by the booth. We are looking forward to doing all of it again next year at AMP 2020 in Vancouver, British Columbia!