Golden Helix + Genomenon: A Powerhouse Integration for Clinical Variant Analysis

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About this webcast

September 24, 2025 // 12:00 PM EST

Presented By: Rana Smalling, PhD, Field Application Scientist & Nate Fortier, PhD, Director of Research

Genomenon Guest: Denice Belandres, Senior Manager of Customer Success
Denice Belandres is the Senior Customer Success Manager at Genomenon, where she supports Mastermind and CKB users across both clinical and research applications.  With a background in germline variant interpretation in clinical NGS labs, Denice brings deep technical expertise and a passion for helping customers advance their work in both rare disease and oncology.

Webcast Abstract:

Golden Helix is excited to announce new Genomenon annotation sources now available in VarSeq, bringing powerful curated resources into both germline and somatic variant analysis workflows.

On the germline side, the Genomenon Mastermind database provides expert curated classifications and ACMG criteria for thousands of variants relevant to hereditary and rare disease. This data allows our users to enhance their existing germline analysis workflows by incorporating evidence that cannot be programmatically evaluated, such as functional and case-control studies, giving clinical labs access to more complete and confident variant classifications. In this webcast, we will demonstrate how these classifications can be seamlessly integrated into VSClinical ACMG guidelines workflows as previously interpreted variant tracks to streamline the interpretation process.

On the somatic side, the Genomenon Cancer Knowledgebase (CKB) empowers data-driven decisions in cancer diagnosis and treatment by linking genetic variants with therapies, clinical trials, and supporting evidence. Curated by scientific experts and updated frequently, CKB supplements GOLDEN HELIX CANCERKB by providing additional clinical evidence on variants, CNVs, and fusions that are less well studied, helping labs keep pace with the fast-moving world of somatic variant interpretation. During the webcast, we will showcase how CKB annotations integrate into filtering workflows and support VSClinical AMP guidelines workflows, enabling prioritization and interpretation of clinically significant variants with direct ties to Tier 1 evidence.

Through germline and somatic demonstrations, attendees will see firsthand how incorporating Genomenon’s Mastermind and CKB tracks into VarSeq empowers labs with the curated knowledge necessary to accelerate variant interpretation, improve consistency, and confidently deliver clinically actionable reports.

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Find out how Golden Helix software enables users to harness the full potential of genomics to identify the cause of disease, improve the efficacy and safety of drugs, develop genomic diagnostics, and advance the quest for personalized medicine.