The Golden Helix team is excited to be headed to Baltimore for the AMP 2019 Meeting, and we hope to see you there!
You will find our team at booth #2856. Swing by or schedule a time to talk with us one on one about how Golden Helix’s platform is redefining next-gen sequencing analysis. Our team would love to hear what you’re working on and answer all of your questions.
Innovation Spotlight Talks
Golden Helix President & CEO, Andreas Scherer, Ph.D., and VP of Product & Engineering, Gabe Rudy, will be presenting two Innovation Spotlight Talks in the Exhibition Hall, Stage 1:
State of the Art Clinical Copy Number Variant Analysis in Next-Gen Sequencing Data: Gene Panels, Whole Exome, Whole Genome
Thursday, Nov 7th – 2:15pm – 2:45pm
Copy Number Variations (CNVs) are associated with a variety of genetic disorders, including autoimmune diseases, autism, and cancer. Golden Helix has developed an industry-leading CNV calling solution, called 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 spotlight, Golden Helix President & CEO, Andreas Scherer, Ph.D., and VP of Product & Engineering, Gabe Rudy, will discuss VS-CNV’s analysis capabilities with a focus on the application of these various CNV annotations for filtering false positive and clinically irrelevant CNVs. The talk will also include a discussion of CNV interpretation in accordance with the AMP guidelines for the interpretation of somatic variants.
Clinical Variant Analysis: Applying the AMP & ACMG Guidelines in the Clinical Practice
Saturday, Nov 9th – 10:00am – 10:30am
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. Join Golden Helix President & CEO, Andreas Scherer, Ph.D., and VP of Product & Engineering, Gabe Rudy, in this spotlight to learn more about 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
In-Booth Demos
In addition to these talks, we will be giving our short, in-booth demos showcasing several different areas of our clinical analysis pipeline, including:
Thursday, Nov 7th
- 11:45 AM: Clinical Interpretation of germline variants in concordance with ACMG guidelines
- 12:30 PM: Genetic data warehousing for clinical NGS testing
- 2:15 PM: Clinical Interpretation of somatic variants in concordance with AMP guidelines
- 3:00 PM: CNV Analysis – a complete clinical workflow
- 4:00 PM: Clinical interpretation of somatic variants in concordance with AMP guidelines
Friday, Nov 8th
- 10:00 AM: Genetic data warehousing for clinical NGS testing
- 10:30 AM: Clinical Interpretation of somatic variants in concordance with AMP guidelines
- 12:30 PM: CNV Analysis – a complete clinical workflow
- 1:15 PM: Clinical Interpretation of germline variants in concordance with ACMG guidelines
- 3:00 PM: CNV Analysis – a complete clinical workflow
Saturday, Nov 9th
- 10:15 AM: Clinical Interpretation of germline variants in concordance with ACMG guidelines
- 12:20 PM: Clinical Interpretation of somatic variants in concordance with AMP guidelines
- 1:00 PM: Genetic data warehousing for clinical NGS testing
And, don’t forget to share a photo wearing your Golden Helix t-shirts and tagging #GoldenHelix for a chance to win our exclusive Metallic Tiger T-Shirt!
