Integration with Genomenon's Mastermind database for variant-level literature evidence. Access curated gene–disease and variant–disease associations to support confident clinical decisions.
A genomic literature database is the backbone of clinical variant interpretation, providing the historical and peer-reviewed context necessary to classify variants with confidence. As the volume of genomic literature grows exponentially, manual searching across multiple journals and databases becomes a bottleneck for clinical throughput.
Golden Helix integrates Genomenon’s Mastermind and Cancer Knowledgebase (CKB) directly into the VarSeq analysis environment. This integration eliminates the need to switch between tools, allowing clinical teams to access variant literature evidence and curated variant database insights alongside their sequencing data.
Whether diagnosing rare inherited conditions or identifying targeted oncology treatments, the combination of VarSeq and Genomenon delivers high-confidence insights into variant pathogenicity, gene-disease association, and therapeutic relevance within a unified interpretation workflow.
Mastermind accelerates interpretation by indexing over 27 million variants across the global literature. Users gain access to expertly curated content aligned with ACMG standards.
The Cancer Knowledgebase (CKB) offers oncology-specific curation, linking variants to therapies, trials, and prognostic relevance.
Reduce manual curation and literature review time significantly through in-platform access to variant evidence.
Combine Mastermind data with sources like ClinVar to streamline filtering and surface pathogenic variants faster.
Support regulatory requirements with robust, evidence-supported variant classifications and audit trails.
Link somatic variants to therapies, trials, and evidence to inform oncology diagnosis and treatment decisions.
Maintain speed and accuracy whether processing single cases or running enterprise-scale cancer programs.
Single integration point for both germline and somatic evidence, eliminating the need to switch tools.
By integrating Genomenon's curated content directly into the VarSeq Suite, clinical labs can automate evidence assembly and accelerate variant review. The unified annotation engine combines premium sources with public databases for a comprehensive view of every variant.
Search and review literature-backed variant data without leaving your analysis software.
Automate criteria scoring with expert curated classifications from Mastermind and CKB.
Generate evidence-supported clinical reports with direct citations to curated literature.
"By integrating Genomenon's Mastermind directly into VarSeq, we've reduced manual literature review time by over 70% while improving our diagnostic yield."
Leverage Mastermind for expert curated classifications and ACMG criteria. Accelerate rare disease diagnosis with instant evidence for candidate variants.
Rare Disease SolutionsUse CKB to connect somatic variants with therapies, clinical trials, and literature evidence. Identify targeted treatment strategies rapidly.
Oncology WorkflowsIntegrate curated evidence into filtering strategies to focus only on variants with existing clinical or functional relevance.
Variant Analysis DetailsMastermind indexes over 27 million germline and somatic variants, providing deep insights into pathogenicity, gene-disease relationships, and phenotypic associations derived from global literature.
While Mastermind focus on comprehensive variant-literature evidence, the Cancer Knowledgebase (CKB) is specifically curated for oncology, linking somatic variants directly to therapies, trials, and diagnostic criteria.
Yes, the Genomenon Mastermind and CKB integrations are available as premium annotation modules within the VarSeq Suite. Contact our sales team for licensing details.
Genomenon updates their curated content regularly to include the most recent peer-reviewed publications and clinical trial updates, which are then synced directly into VarSeq.
Learn how to leverage expert curated literature to accelerate your clinical interpretation workflows.
Join clinical laboratories worldwide using Genomenon Mastermind and CKB integrated with VarSeq for evidence-backed interpretation.