Discover the Latest Advances in Variant Classification and Interpretation Tools at Golden Helix's Booth at ASHG 2024
Join Golden Helix at the American Society of Human Genetics (ASHG) 2024 conference in Denver, Colorado, and explore the forefront of genetic research. This premier event gathers leading researchers, clinicians, and industry experts to exchange insights on the most cutting-edge developments in medical genetics.
At Golden Helix's booth (#959), you'll have the opportunity to learn more about our state-of-the-art genetic analysis tools, including exciting updates in our pharmacogenomics (PGx) solution. We are thrilled to announce the release of VarSeq 2.6.2, which brings significant advancements to PGx analysis. As next-generation sequencing (NGS)-based PGx continues to gain momentum worldwide, VarSeq seamlessly integrates PGx into your workflows.
Our latest VSPGx updates now include enhanced capabilities for analyzing traditionally challenging pharmacogenes. We've developed a specialized CYP2D6 star allele caller, CypCall, which accurately identifies star alleles in CYP2D6. Additionally, VarSeq now supports the integration and reporting of star alleles from the critical HLA gene, providing a more comprehensive analysis. We also offer support for third-party callers from PacBio, Oxford Nanopore, and Illumina, further expanding your options for seamless integration.
Annotations play a crucial role in any pharmacogenomics workflow, and we’re proud to offer an expanded set of FDA-defined alleles, drugs, and recommendations, all aligned with CPIC guidelines. These updates ensure that your PGx reporting is both comprehensive and up-to-date. VarSeq 2.6.2 also introduces a flexible data import infrastructure, enabling you to call PGx variants directly from coverage BAM files and import long-read data, including variant phase information for star allele calling. These improvements streamline and enhance your overall variant analysis process.
Stop by our booth to experience live demos of our software, explore the newest features, and discuss how our tools can revolutionize your genetic research. Plus, by visiting our booth for a demo, you'll receive one of our exclusive, limited-edition t-shirts designed just for ASHG 2024 attendees!
Don’t miss this opportunity to discover the latest in genetic analysis tools and engage with our expert team at ASHG 2024. We can't wait to see you in Denver!
Find us in Booth #959
Come explore our exciting product demos and meet our team at Booth #959. Don’t forget to snag a brand-new t-shirt when you attend a demo. See you in Denver!
Demo Schedule
Don't miss out on the chance to experience our advanced software solutions in action! Our expert Field Application Scientist team will be leading short software demos throughout the conference exhibition at our booth. Stop by to see how our powerful and user-friendly tools can help take your genomic analysis and interpretation to the next level.
- Wednesday, November 6:
- 10:00 - PGx: Pharmacogenomics Workflow
- 12:00 - VarSeq Dx: Using the VarSeq Suite as a Medical Device Under IVDR
- 12:30 - Whole Genome Analysis with Long Read Data
- 1:00 - NGS Enterprise Capabilities - Automation, Warehousing, Continuous Improvement
- 2:40 - Carrier Status Analysis in VarSeq
- 4:10 - Somatic NGS Workflow with VarSeq - Streamlining Tertiary Analysis with Oncogenicity Classifier and CancerKB
- Thursday, November 7:
- 10:00 - Whole Genome Analysis with Long Read Data
- 12:00 - Somatic NGS Workflow with VarSeq - Streamlining Tertiary Analysis with Oncogenicity Classifier and CancerKB
- 12:45 - 1:15 CoLab Session (Theater 3): Golden Helix: VarSeq, A Comprehensive and Scalable NGS Analysis Suite
- 2:40 - PGx: Pharmacogenomics Workflow
- 4:10 - VarSeq Dx: Using the VarSeq Suite as a Medical Device Under IVDR
- Friday, November 8:
- 10:00 - Somatic NGS Workflow with VarSeq - Streamlining Tertiary Analysis with Oncogenicity Classifier and CancerKB
- 12:00 - NGS Enterprise Capabilities - Automation, Warehousing, Continuous Improvement
- 12:30 - Whole Genome Analysis with Long Read Data
- 1:00 - PGx: Pharmacogenomics Workflow
- 2:40 - VarSeq Dx: Using the VarSeq Suite as a Medical Device Under IVDR
- 4:10 - Carrier Status Analysis in VarSeq
Corporate Satellite Talk
Golden Helix: VarSeq, A Comprehensive and Scalable NGS Analysis Suite
Thursday, November 7, 12:45 - 1:15, Theater 3
Presented by: Darby Kammeraad, Director of Field Application Services
Join us for an insightful session where we'll present the latest advancements in NGS analysis and clinical interpretation. Experience our high-quality variant analysis and interpretation capabilities that seamlessly scale to your needs, supporting both short and long-read technologies. Learn how to implement ACMG and AMP guidelines for accurate variant interpretation, directly call CNVs across target regions, exomes, and whole genomes, and establish repeatable clinical workflows. We'll also showcase the latest updates in our cancer analysis tools, discuss prenatal and rare disease screening advancements, and demonstrate the integration of VarSeq Dx for clinical diagnostics with VSWarehouse for robust data management. Additionally, get a closer look at our recently unveiled pharmacogenomics solution, VSPGx, based on the CPIC guidelines.