Next-Generation Sequencing Analysis in VSClinical

August 12, 2020 | 12:00 PM EDT

Presented by Eli Sward, PhD, Golden Helix


VarSeq is a tertiary analysis platform that allows users to filter and annotate NGS sequencing data to identify clinically relevant variants. Following this workflow, VSClinical can then be used to automate both germline and somatic variant analysis in accordance with the ACMG and AMP guidelines by using a variety of functional prediction models and clinical and reviewer-based annotations. Once variant or biomarker interpretations are completed, they can be rendered in a customizable clinical report and stored in an internal assessment catalog as an internal variant database repository. Together, implementation of VSClinical will promote increased lab throughput as well as accuracy and compliance with the ACMG and AMP guidelines, which in turn can save time and money. To show the capabilities of our software, this webcast will provide a demonstration of how to use VarSeq and VSClinical for the evaluation of both germline and somatic variants in accordance with the ACMG and AMP Guidelines.

In this webcast, we will cover:

  • Filter logics for germline and somatic variants and selecting them into the VSClinical interface
  • Capabilities of functional prediction and splice site algorithms for edge case variants
  • The functionality of changing the clinically relevant transcript on variant interpretation
  • Rendering a clinical report with germline and somatic variants with the inclusion of clinical trials