Mastermind Genomic Intelligence Platform and Cancer Knowledgebase integrated into your analysis environment.

Features

By integrating Genomenon’s Mastermind and Cancer Knowledgebase directly into the VarSeq Suite, Golden Helix customers can now access expertly curated genomic content for both inherited disease and cancers alongside their existing workflows. This powerful combination delivers high-confidence insights into variant pathogenicity, biomarker associations, therapeutic relevance, diagnostic criteria, and supporting literature — all within a familiar interpretation environment.

The seamless harmonization of Mastermind and CKB with VarSeq’s annotation engine enhances variant prioritization by unifying these premium sources with trusted public databases. This streamlined filtering enables labs to surface the most clinically relevant variants quickly and with greater confidence. As a result, clinical teams can significantly reduce manual curation time, accelerate turnaround, and produce evidence-backed reports with improved consistency and accuracy.

Importantly, this integration is designed for flexibility and scale. Whether deployed on-premises, in the cloud, or within hybrid infrastructures, Golden Helix continues to ensure enterprise-grade data control, security, and regulatory compliance — enabling diagnostic labs worldwide to meet the evolving demands of precision medicine.

Mastermind's Genomic Intelligence Platform Integration

Turning Genomic Data into Actionable Evidence

Interpreting genomic variants requires navigating countless publications and databases, a slow process prone to gaps and missed evidence. Genomenon’s Mastermind Genomic Intelligence Platform accelerates interpretation by indexing over 27 million germline and somatic variants. Users gain access to expertly curated content curated in alignment with ACMG standards, that delivers deep insights into pathogenicity, gene disease relationships and much more. Mastermind updates content regularly, enabling clinical teams to search by gene, variant, disease, phenotype, and/or therapy for immediate, evidence-backed insights for faster, more confident decisions.

Mastermind integrates directly into Golden Helix’s VarSeq suite, delivering Genomenon’s curated genomic content within the same analysis environment. By combining Mastermind data with trusted public sources like ClinVar, this integration streamlines filtering, speeds variant interpretation, and ensures consistent, evidence-based clinical reports. Laboratories benefit from reduced manual curation time, increased throughput, and confidence that their analysis leverages Mastermind’s expansive indexed data and ACMG-curated variants.

Increase Diagnostic Yield with Mastermind in VarSeq

Faster Turnaround: Reduce interpretation time with direct, in-platform access to literature-backed variant data.

Scalable Workflows: Efficiently process single cases or high-throughput projects without sacrificing quality.

Comprehensive Evidence: Leverage over 27M indexed germline and somatic variants for analysis.

Improved Accuracy: Harmonize curated content with public databases to produce consistent, defensible reports.

Streamlined Compliance: Support regulatory requirements with robust, evidence-supported variant classifications.

Genomenon's Cancer Knowledgebase (CKB)

Connecting Cancer Genomics to Therapies & Trials

Precision oncology demands more than raw variant data. It requires clear, up-to-date connections between genomic alterations, cancer biology, and therapeutic options. The Genomenon Cancer Knowledgebase (CKB) offers expertly curated, literature-backed insights on somatic variants, biomarkers, and drug associations. Continuously updated by oncology experts, CKB links each variant to its diagnostic, prognostic, and therapeutic relevance. This allows users to rapidly identify targeted treatment strategies and relevant clinical trials. It also removes the need for labor-intensive processes, ensuring decisions are guided by the most current, evidence-based cancer insights.

Integrating CKB into Golden Helix’s VarSeq platform embeds expert oncology insights directly into the variant analysis workflow. With CKB’s curated insights and trusted public datasets, users can instantly filter, prioritize, and interpret somatic variants—delivering reports with the latest evidence on biomarker significance and therapeutic relevance. This integration speeds up turnaround, improves treatment-matching accuracy, and ensures consistent, high-quality reporting across every oncology case.

Smarter Somatic Analysis: CKB Curated Knowledge in VarSeq

Accelerated Oncology Interpretation: Access curated cancer variant insights instantly within your analysis environment.

Therapeutic Relevance at Hand: Quickly identify targeted therapies, companion diagnostics, and relevant clinical trials. 

Assessments of Pathogenicity: It provides clinical evidence for variants, CNVs, breakends, and fusions.

Faster Turnaround: Reduce manual literature review time and deliver reports to clinicians sooner.

Scalable for Any Volume: Maintain quality and speed for single-patient analyses or enterprise-scale cancer programs.

Recommended Learning Materials

We have a variety of supplemental learning materials that are an excellent resource for anyone interested in the industry or our software solutions. Here are some of our recommended materials for you to check out related to VarSeq!

Contact Us For More Information

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Technical Specifications

VarSeq offers flexible deployment options to match your infrastructure needs. Deploy on local workstations, servers with remote desktop access, or leverage our new "bring your own cloud" model using provided scripts for automated cloud deployment.

The software operates securely within corporate networks, supporting web proxy configurations and maintaining minimal internet connectivity requirements. Connections to Golden Helix servers are limited to essential functions like license verification and annotation updates.

See System Requirements for more details of hardware and operating systems requirements based on planned workflows.