Family-Based Workflows in VarSeq and VSClinical

February 10, 2021 | 12:00 PM EST

Presented by Eli Sward, Ph.D, Field Application Scientist Manager


Golden Helix is a single testing paradigm that allows users to start with next-generation sequencing data and finish with a clinical report. Our solutions are comprehensive as they are all performed in one software suite, which can save time and money as they prevent the need to outsource to different companies. Furthermore, our software is fully transparent in that you have full control over the steps performed in your analysis. Golden Helix is also on the forefront in the clinical workspace as we have implemented the ACMG and AMP guidelines to evaluate single nucleotide variants, insertions and deletions, as well as structural variants.

Beyond these functionalities, Golden Helix provides the ability to perform family-based analysis. Our ACMG and Exome trio templates give users a starting point to understand the different inheritance models ranging from transmitted to de novo variants, but we also have features that can provide additional evidence for both traditional and nontraditional family-based workflows. Specifically, we have algorithms that can be implemented to look at extended pedigree information and sample relatedness as well as options for examining whether a given variant such as a CNV segregates among similarly affected family members. In this webcast, we would like to demonstrate these features and show some solutions for the analysis of different family structures.  

As an overview, this webcast will cover:

-        Implementing filter logics for different family structures

-        Algorithms that can be used for establishing clinical significance in family-based workflows

-        Visualization capabilities for further understanding of inheritance models

-        Confirming and evaluating transmitted CNVs

We hope you can attend this webinar and we look forward to seeing you soon.