At Genomenon, we believe that advancing precision medicine starts with access—to curated evidence, variant-level clarity, and expert insights that inform clinical decisions. That’s why we’ve introduced Mastermind CORE, a newly expanded version of our Genomic Intelligence Platform that enables users to explore the depth and structure of expertly curated genomic data with powerful tools previously available only to PRO users.
As part of this transition, we’ve made curated content for 33 high-impact genes available within CORE—covering key areas such as hereditary cancers, neurodevelopmental disorders, metabolic syndromes, complement-driven diseases, and more. These genes have been selected based on their strong clinical utility, with curation focused on variant pathogenicity, gene-disease relationships, and therapeutic relevance.
This offering will be available through June 30th, with 10 of the 33 genes rotating quarterly to reflect evolving research priorities, while the other 23 genes will remain accessible long-term within the platform. For clinicians and researchers working to resolve uncertain findings, validate panels, or accelerate rare disease insights, Mastermind CORE now provides an opportunity to experience curated genomic intelligence at its most actionable.
What Is Mastermind CORE?
Mastermind CORE is your entry point to the most comprehensive genomic evidence platform in the world.
It’s the free tier of the Mastermind Genomic Intelligence Platform, providing:
- Expert-curated variant insights for high-priority genes
- Gene–disease relationship data essential for diagnostic precision
- Advanced filters to refine variant queries by mechanism, classification, or relevance
- Indexed literature supporting copy number variation (CNV) searches
- Deeper clinical context from expertly curated findings
Whether you’re reviewing a VUS, designing a gene panel, or validating a finding, Mastermind CORE helps you get to the right evidence—faster.
The 33 Free Genes You Can Explore Today
As part of our ongoing commitment to supporting rare disease research, we are providing complimentary access to a rigorously curated collection of genes with demonstrated relevance across a broad spectrum of rare and inherited disorders. This initiative includes genes implicated in hereditary cancer syndromes, encompassing those with well-characterized roles in tumor suppression, DNA repair, and targeted therapy responsiveness. These genes are foundational in precision oncology, where understanding variant-level pathogenicity can inform early diagnosis and personalized treatment strategies.
In addition to oncologic applications, the gene set spans numerous neurological and neurodevelopmental conditions. This includes genes associated with epileptic encephalopathies, progressive neurodegenerative syndromes, and congenital myopathies affecting neuromuscular function. These disorders often present early in life and are among the most challenging to diagnose and manage, making variant-level insights especially critical. Metabolic disorders are also prominently represented, with genes involved in mitochondrial DNA maintenance, bile acid metabolism, and phosphate homeostasis—each tied to rare conditions that can have severe and multisystemic manifestations if not accurately identified.
Complementing these categories are genes central to complement pathway dysregulation and thrombotic microangiopathies, such as atypical hemolytic uremic syndrome, as well as those affecting cardiac rhythm and structure, and red blood cell integrity. By offering open access to variant curation in genes such as SCN1A (epilepsy), CFTR (cystic fibrosis), and C3 (complement regulation), we aim to empower researchers and clinicians with the genomic insights needed to accelerate discovery, improve diagnostic accuracy, and ultimately enhance patient outcomes in the rare disease community.
Unlocking the Full Power of Mastermind with PRO
Mastermind CORE equips users with curated insights across key genes. However, many clinical and research applications demand greater depth, wider coverage, and expanded flexibility. Mastermind PRO is built to deliver exactly that.
PRO users benefit from:
- Access to over 19,000 genes and 27 million variants
- Over 9,000 gene–disease relationships
- Indexed, searchable content from 10 million full-text articles and 3.5 million supplemental datasets
- Comprehensive variant coverage for ACMG secondary findings, hereditary cancer, cardiovascular panels, and more
Those interested in exploring full PRO access — whether for individual use, institutional licenses, or team-wide implementation — are encouraged to schedule a personalized discovery session. Genomenon offers flexible licensing plans and guided walkthroughs tailored to specific organizational needs.
Contact us to learn more.
For additional information, the support team is available at support@genomenon.com.
