Couple Carrier Screening Tutorial and Onboarding Training Now Available!

         April 30, 2024

We are pleased to announce new training materials are available for multi-sample workflows in VarSeq! Specifically, we have a New Carrier Screening Tutorial and New Onboarding and Training guides for Carrier Screening Analysis in VarSeq, and Clinical Evaluation and Carrier Status Reporting in VSClinical. This blog gives an overview of what the user can expect to encounter when working through the carrier screening workflow and also provides direct access to the tutorials and training materials.

The VarSeq VSClinical Carrier Screening Tutorial will cover a multi-sample analysis workflow with partnered samples provided by Golden Helix for carrier variant detection. This partnered analysis takes the user through importing VCF files, annotating and filtering variants, applying the Shared Carrier Gene Detection algorithm, and rendering a multi-sample clinical report using the ACMG Guidelines workflow for carrier screening, including an indication of the reproductive risk of certain variants. The sample data includes SAMPLE1, the primary sample, and SAMPLE2, the partner sample, with a corresponding sample manifest to set sample level fields when importing the files to the Couples Carrier Screening Template.

This workflow is multifaceted and will be used to first identify autosomal recessive and x-linked variants that are within the ACMG Carrier Screening Panel of genes for each individual. The Shared Gene Detection component then guides the user in identifying genes wherein both samples have at least one unique variant. These variants will then be evaluated with VSClinical ACMG and included in a report that includes sample information, variants, and family histories of both the primary sample and the partner sample.

The Carrier Screening Onboarding guidelines teach the user step by step how to identify variants in genes that put reproductive partners at increased risk of having a child with a genetic disorder. This is a more open-ended approach to learning how to use the Shared Carrier Gene Detection algorithm, where a user can dive right in using their own partnered samples.

We hope these materials will be useful for any customer wanting to understand ACMG guideline-based carrier screening and how to conduct such an analysis in VarSeq and VSClinical. Please reach out to us at support@goldenhelix.com if you have any questions or would like a training session on this topic.

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