Genomenon Data (Mastermind FLEX, CKB FLEX, API)

Genomenon Data is a suite of comprehensive, constantly updated genomic data products designed to integrate directly into clinical diagnostic and research pipelines. Offered as Mastermind FLEX, CKB FLEX, and a dedicated API, these solutions provide curated gene- and variant-level insights to ensure maximal accuracy and optimal sensitivity for diagnostic interpretation, precision therapeutics development, and oncology research.

Genomenon's data offerings serve clinical diagnostic laboratories, genomic researchers, and precision medicine teams who need reliable, expertly curated evidence to interpret germline and somatic variants, identify relevant therapies, and support patient diagnosis at scale.

Mastermind FLEX Data — Germline

• Access comprehensive data combining expertly curated gene- and variant-level content with indexed variant-level data
• Curated Gene File: covers 9,000 gene-disease relationships across 6,500 genes, updated quarterly, with thorough review of external publications, clinical evidence, and functional evidence, including classification and inheritance patterns
• Curated Variant File: an extensive repository of germline data that adheres to ACMG guidelines to facilitate in-depth variant-level analysis, providing all necessary information to interpret variants and supporting evidence
• Indexed Variant File: highly detailed and sensitive information about genetic variants, updated quarterly, ensuring researchers do not miss crucial information needed to make informed decisions; included with the Curated Gene File

Cancer Knowledgebase (CKB) FLEX Data — Somatic

• Interpret somatic variants and identify the most relevant therapy via efficacy evidence annotations
• Mine curated content for drugs with clinical and preclinical evidence to gain insights into treatment options
• Access real-time clinical trial information for oncologists and patients
• View resistance data for targeted therapies to assist with monitoring response and identify clinical areas lacking research evidence
• See connections to growing data complexity with genomic signatures
• Utilize translational model data to identify models best suited for research and interrogate clinically actionable genes for gene panel design
• Interpret data from NGS assays, liquid biopsies, and expression studies
• Quickly locate genomic variants with biochemical functional effect

Genomenon API

• Streamline research workflows with automated evidence collection and real-time updates
• Provides access to a database spanning over 24 million variants, 25,000 genes, 15,000 phenotypes, and 69,000 drug therapies
• Standardization, Automation, and Variant Prioritization: automate evidence querying to speed analyses and enable researchers to focus only on variants of interest
• VUS Reanalysis: retrieve updated evidence at configurable cadence intervals and based on specific criteria such as time
• Support for Internal Database Updates: obtain PMIDs and article metadata after manual curation to support and maintain internal databases
• Ensures clients always have the most up-to-date information, expediting analyses and streamlining workflows

Key Data Capabilities Across Products

• Quarterly updates to gene and variant files to reflect the latest published evidence
• Adherence to ACMG guidelines for germline variant interpretation
• Curated efficacy and resistance evidence annotations for somatic oncology variants
• Real-time clinical trial data integration for cancer variant interpretation
• API-driven automation for evidence querying, variant prioritization, and database maintenance

Genomenon Data products are built to integrate into existing diagnostic and research pipelines, supporting clinical diagnostic laboratories in achieving accurate patient diagnosis and enabling precision therapeutics teams to accelerate development and bring targeted therapies to patients. Organizations can contact Genomenon directly to discuss tailored data access options and API integration.