Recent webcasts have been focused on our latest features in Pharmacogenomics and the IVDR announcement for our tools now marked as a medical device. While technology and market updates are incredibly important to our customers, it is also important to take a step back and revisit the fundamental purpose of our products. The Golden Helix product stack is tailored for comprehensive variant evaluation and facilitating a complete tertiary analysis from initial data import to final clinical report. The tertiary analysis process is comprised of various steps of variant prioritization that includes but is not limited to filtering on alternate allele frequency to isolate rare variants in the population and ontology to capture variants that are predicted to impact protein function. Variant assessment is only possible by referencing numerous databases that contain the necessary fields and evidence used for filtering and interpretation. VarSeq is our variant assessment platform and not only hosts a central access point to the numerous databases but also contains a dedicated interpretation interface designed to direct the user through the germline ACMG and somatic AMP guidelines for variant evaluation. Though VarSeq contains the necessary tools to streamline comprehensive variant assessment, there will likely never be a full replacement for the human component to variant assessment. The goal with VarSeq is to achieve the best of both worlds, a defendable degree of automation to improve analytical efficiency paired with upholding the necessary human touch required to render accurate variant interpretations.

The purpose of this webcast is to expose our audience to the fundamental annotation and interpretation capabilities of VarSeq. We will pay close attention to the required depth of assessing variant impact to demonstrate that simple record matching against variant annotation is only one step of the process and requires human review. Moreover, we will also look at examples of recent advancements in variant calling strategies that provide multiple variant outputs as evidence to support a singular biological impact and complete diagnostic outcome. Please join us as we explore how users can make the most out of the VarSeq software to streamline comprehensive variant assessments in a clinical utility.

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Please enjoy this webcast recording. Should you have any questions about the content covered, please reach out to our team here.