Mastermind Genomic Intelligence Platform

The Mastermind Genomic Intelligence Platform, developed by Genomenon, is the world's most comprehensive genomic evidence platform, designed to identify every genomic association supported by medical literature. By drawing informative connections between genes, variants, copy number variants (CNVs), diseases, phenotypes, therapies, and categorical keywords, Mastermind elevates the efficiency and accuracy of clinical decision-making and drug discovery. The platform serves thousands of clinical laboratories, researchers, and clinicians who require deep, reliable genomic intelligence to support variant interpretation and precision medicine workflows.

Mastermind PRO combines genomics-focused AI with expert human curation to deliver unparalleled insights at the gene and variant level, drawing from over 11 million full-text articles and over 3.7 million supplemental datasets — all updated on a weekly basis. A free version, Mastermind CORE, provides access to a limited subset of genes and core platform features, making it an accessible entry point for labs exploring the platform's capabilities.

Core Clinical Benefits

• Reduce Turnaround Time: Access a continually growing catalog of pre-classified variants to facilitate rapid uncovering and interpretation of novel genetic variations, supported by gene and variant summary information that streamlines analysis.
• Increase Diagnostic Yield: Leverage Mastermind's genomic language processing technology to identify more disease-causing variants with greater confidence and precision.
• Accelerate Throughput: Optimize workflows by rapidly prioritizing variants of disease-causing genes, reducing resource requirements and enabling a more targeted analytical approach.

Platform Coverage and Key Statistics

• Data on over 19,000 genes and more than 27.8 million variants, including both germline and somatic variants.
• Over 9,000 gene-disease relationships curated within the platform.
• More than 11 million full-text articles and 3.6 million supplemental datasets indexed and searchable.
• Articles available for Copy Number Variants (CNVs).
• Over 37,789 journals indexed — significantly broader than comparable platforms such as HGMD and ClinVar.
• Used by over 2,000 clinical labs worldwide.

Curated Content Areas

• Curated content covering hereditary and rare diseases, including genes found in most cardiac and hereditary cancer panels.
• Cardiac panel includes over 140 genes associated with arrhythmias, cardiomyopathies, and syndromic conditions with cardiology phenotypes.
• Hereditary cancer panel includes variant-level insights on 115 genes, including 16 genes curated by ClinGen.
• Curated content on ACMG secondary findings, encompassing all 81 genes.
• Clinical exome genes curated based on ClinGen recommendations, following ACMG/AMP interpretation criteria.

Mastermind PRO Features

• Access to insights from 11 million full-text articles and 3.6 million supplemental articles.
• Curated content for thousands of gene-disease relationships and variants.
• Ability to prioritize results by relevance and refine search results by ACMG criteria.
• Powerful advanced search capability with unlimited searches and article views.
• Search into supplemental data and export bibliographic search results.
• Curated variant content following ACMG guidelines.

Mastermind CORE (Free Version)

• Freemium access covering approximately 30–35 genes.
• Gene-level intrinsic metrics and curated gene-disease relationships.
• Filters and advanced search criteria.
• Articles for copy number variants (CNVs).
• Curated variant content following ACMG criteria.
• Matches for genes and variants in supplemental data.

Data Licensing and Integration

• Integrate Mastermind data directly into laboratory pipelines for streamlined, automated analyses.
• Access causative associations between genes and diseases programmatically.
• Retrieve variant-level curated insights following ACMG guidelines.
• Receive automated, real-time updates on highly sensitive data for every published variant.
• Available via flat data files and a dedicated API.

Mastermind is built and maintained by Genomenon and is updated weekly, ensuring users always have access to the most current genomic evidence. The platform supports partner integrations with leading clinical tools and is complemented by Genomenon's Cancer Knowledgebase (CKB) for somatic variant interpretation, as well as additional services including clinical diagnostic support, real-world evidence solutions, and genetic disease sponsorship programs.