Genomenon
Genomenon is an AI-driven genomic intelligence company that mines 11.2 million biomedical publications to deliver variant-level evidence for clinical diagnostic labs and biopharmaceutical companies pursuing precision medicine, rare disease, and oncology programs.
- Company typePrivate
- Founded2014
- HeadquartersAnn Arbor, United States
- Headcount101–250
- GTM typeB2B
- OfferingSoftware
What Genomenon does
Genomenon, Inc. is a private, venture-backed genomic intelligence software company founded in 2014 as a spin-out of the University of Michigan and headquartered at 206 E Huron Street in Ann Arbor, Michigan. The company builds AI-driven platforms — Mastermind (germline variants) and the Cancer Knowledgebase / CKB (somatic variants, acquired from The Jackson Laboratory in May 2024) — that read the full text of 11.2 million biomedical articles and 3.7 million supplemental datasets across 18,000 journals to surface gene-variant-disease associations at the variant level. Its three-step pipeline combines automated NLP-based AI reading (Identify), scientist-led structuring of patient-level evidence (Structure), and expert curation (Curate) to deliver traceable, regulatory-grade evidence at scale, with 80% of the clinical exome already curated by 100+ graduate-level scientists.
The company serves two primary enterprise segments: clinical diagnostic laboratories (250+ labs across 145+ countries including Mayo Clinic, Quest Diagnostics, NHS, CDC, Myriad Genetics, and Lurie Children's Hospital), which use Mastermind and CKB to reduce variants of uncertain significance (VUS), accelerate case sign-out, and support ACMG-compliant reporting; and biopharmaceutical companies (75+ precision medicine programs including Loxo@Lilly, Amicus Therapeutics, UCB, Inozyme Pharma, and Mirum Pharmaceuticals), which license custom Real-World Evidence builds to support drug label expansion and regulatory submissions. Revenue is generated through enterprise SaaS subscriptions (Mastermind Professional, CKB FLEX, CKB BOOST) on annual billing, professional services for bespoke evidence builds and clinical diagnostic curation, and a Genetic Disease Sponsorship program; freemium tiers (Mastermind CORE, CKB CORE) serve as product-led growth entry points. Go-to-market blends enterprise field sales, event-driven demand generation across conferences such as ASHG, ACMG, AMP, and Bio-IT World, and an extensive OEM distribution network that embeds Mastermind evidence into Illumina, Agilent, SOPHiA GENETICS, Congenica, and other clinical lab platforms.
Genomenon has raised approximately $29.6M in disclosed equity funding plus ~$3.5M in NIH SBIR grants, with the most recent round a $20M Series B in March 2022 led by Beringea and Spring Mountain Capital and a subsequent $6M SEC-registered offering in May 2024. The company holds a patent on genomic language processing (granted 2019) and has earned industry recognition including Frost & Sullivan's Company of the Year in Genomics (2020) and multiple Bio-IT World Best of Show awards (2019, 2022, 2023). Its CEO is Mike Klein (appointed October 2016), with founder Mark Kiel, MD, PhD serving as Chief Scientific Officer and VP of Product Strategy.
Genomenon firmographics
Firmographics- Name
- Genomenon
- Legal name
- Genomenon, Inc.
- Website
- https://genomenon.com
- Company type
- Private
- Founded year
- 2014
- Operating status
- Operating
- Headcount range
- 101–250 employees
- Short description
- Genomenon is an AI-driven genomic intelligence company that mines 11.2 million biomedical publications to deliver variant-level evidence for clinical diagnostic labs and biopharmaceutical companies pursuing precision medicine, rare disease, and oncology programs.
- Ownership category
- akta.pro rank
Genomenon industry classification
Industry- Product category
- Clinical Genomics Software
- NAICS
- Software Publishers (5132), Research and Development in Biotechnology (except Nanobiotechnology) (541714), Scientific Research and Development Services (5417)
- SIC
- Services-Prepackaged Software (7372), Services-Commercial Physical & Biological Research (8731), Services-Medical Laboratories (8071)
- akta.pro primary industry
- Bioinformatics & Multi-omics Analysis Software (HLAGAJAD)
- akta.pro secondary industries
- Genomics & Molecular Diagnostics (Trial Support) (HLAGAEAD), Knowledge Management & Scientific Collaboration / Literature Intelligence (HLAGAJAN), Molecular Diagnostics & Genomics Laboratories (HLAFAMAE)
Keywords
Where Genomenon is headquartered
LocationHeadquarters
- HQ city
- Ann Arbor
- HQ country
- United States
- HQ region
- North America
Offices1 record
Markets served
Genomenon business model
Business model- GTM type
- B2B
- Offering type
- Software
- Cost components
- Personnel, Technology or R&D, Marketing or Sales, Operations, Infrastructure
Revenue model
- Mastermind Software Subscriptions: SaaS subscription model for Mastermind Genomic Intelligence Platform. Offers Professional edition with paid subscription and free CORE tier for limited gene access. Targets clinical diagnostic labs for variant interpretation workflows.
- CKB Software Subscriptions: Cancer Knowledgebase (CKB) platform subscriptions for clinical labs and healthcare systems. CKB FLEX and CKB CORE product tiers provide somatic variant interpretation capabilities.
- Custom Real-World Evidence (RWE) Builds for Biopharma: Bespoke data builds providing variant, patient, and prevalence evidence for pharmaceutical drug development programs. Used for label expansions, trial eligibility, and regulatory submissions. Loxo@Lilly used Genomenon to add 73 variants to the RET label.
- Genetic Disease Sponsorship: Sponsors fund curation of specific genetic diseases, providing open access to curated evidence while Genomenon expands its database coverage.
- Clinical Diagnostic Services: Tailored expert curation services for clinical diagnostic needs, including consulting and bespoke curation projects for healthcare organizations.
Pricing tiers
| Model | Billing | Price |
|---|---|---|
| Freemium | Others | Mastermind CORE (Free) |
| Subscription | Annual | Mastermind Professional (Paid) |
| Freemium | Others | CKB CORE (Free) |
| Subscription | Annual | CKB FLEX / BOOST (Enterprise) |
Go-to-market motion4 records
Distribution channels3 records
Marketing channels7 records
Genomenon product offering
Product offeringCore offering
Genomenon sells AI-driven genomic intelligence software (Mastermind and Cancer Knowledgebase/CKB) that mines 11.2 million full-text biomedical articles and 3.7 million supplemental datasets to surface evidence linking genetic variants to diseases, therapies, and clinical trials. Its 3-step Identify-Structure-Curate workflow combines automated NLP with 100+ scientist curators to produce regulatory-grade variant-level evidence used by clinical diagnostic labs for case sign-out and by biopharma companies for drug label expansion and real-world evidence builds.
Product overview
Genomenon offers a unified genomic intelligence platform consisting of two core products: Mastermind (for germline variant interpretation) and the Cancer Knowledgebase/CKB (for somatic variant interpretation). These platforms are powered by AI-driven literature mining of over 11.2 million full-text articles and 3.7 million supplemental datasets. The product portfolio includes tiered offerings: Mastermind CORE (free) and Mastermind Professional for clinical labs; CKB CORE (free), CKB BOOST, and CKB FLEX for oncology workflows. Supporting services include Real-World Evidence for biopharma drug development, Genetic Disease Sponsorship for open access to curated evidence, and Clinical Diagnostic Services with expert curation support. The company combines AI with scientist curation to deliver traceable, regulatory-grade evidence at scale.
Differentiator
Problem solved
Functional benefit
Brands
- Mastermind: AI-powered genomic intelligence platform for variant interpretation - provides literature-driven real-world evidence for clinical diagnostics and precision medicine, covering 11.2 million full-text articles and 3.7 million supplemental datasets
- CKB (Cancer Knowledgebase)
- Mastermind CORE
- CKB CORE
Products and services
- Mastermind Genomic Intelligence Platform AI-driven genomic search engine that searches millions of biomedical publications to find evidence linking genes, variants, and diseases for clinical diagnosis of cancer and genetic diseases. Provides variant-level evidence, gene-disease associations, and ACMG classification evidence covering 11.2 million full-text articles and 3.7 million supplemental datasets across 18,000 journals.
- Cancer Knowledgebase (CKB) Expert-curated somatic variant database used to interpret cancer genomic profiles, connecting variants to therapies and clinical trials for somatic variant interpretation. Covers germline and somatic variants in oncology workflows.
- Real-World Evidence (RWE) Builds for Biopharma Custom evidence builds providing variant, patient, and prevalence data for drug program decisions, supporting broader labels, trial eligibility, and regulatory submissions for pharmaceutical drug development.
- Genetic Disease Sponsorship Sponsored program providing clinicians and researchers open access to curated genetic evidence for specific diseases, reducing diagnostic barriers while advancing awareness, recognition, and scientific understanding.
- Clinical Diagnostic Services Expert team offering tailored solutions for clinical diagnostic needs, including case review, variant interpretation support, and bespoke curation projects for healthcare organizations.
- Curation On-Demand Service On-demand expert curation service for genetic testing labs when additional support is needed for stalled cases or expert variant interpretation review.
Quantifiable outcome
- Identified 83% more rare disease patients than ChatGPT plus OpenEvidence in head-to-head comparison
- +5 more outcomes
Companies that use Genomenon
Customer profileNamed customers14 records
Segments3 records
Ideal customer profiles3 records
Genomenon technology and API
TechnologyTechnology focussed Yes
API detail
- Has API
- No
- API docs
- API detail
Core technology
AI maturity
App detail
Integration21 records
AI capability6 records
Feature7 records
Genomenon partnerships and signals
Strategic signalPartnerships
26 partnerships are on record, tiered major, core and minor.
- Amicus TherapeuticsmajorStrategic sponsorship to improve diagnosis and research for Fabry disease by curating genetic variant data. Collaboration resulted in submission of over 1,300 GLA gene variants to ClinVar, enhancing genetic test interpretation.
- Compass BioinformaticsmajorStrategic partnership to transform genomic diagnostics in the U.S. and Japan by integrating genomic data and analysis platforms between Genomenon and Compass Bioinformatics.
- Golden HelixmajorStrategic partnership announced in September 2025 to integrate informatics technologies for clinical labs. Combines Golden Helix's VarSeq and VSWarehouse platforms with Genomenon's Mastermind genomic search engine and CKB cancer knowledgebase.
- UCBmajorPartnership to advance Thymidine Kinase 2 Deficiency (TK2d) awareness and diagnosis. Collaborated on genetic variant data curation for the TK2 gene, contributing to improved patient outcomes and research.
- IntelliseqmajorPartnership to integrate Genomenon's Cancer Knowledgebase (CKB) somatic data into Intelliseq's iFlow platform to advance somatic variant interpretation capabilities.
- Mirum PharmaceuticalsmajorPartnership to enhance CTX (Cerebrotendinous Xanthomatosis) disease awareness and diagnosis through rare disease data sharing and precision medicine collaboration.
- GenomOncologymajorPartnership to enhance germline variant classification and genomic reporting. GenomOncology offers access to Genomenon's genomic data through its molecular tumor board platform.
- SOPHiA GENETICSmajorCollaboration to streamline genetic research by integrating Genomenon's genomic literature data with SOPHiA GENETICS' analytics platform.
- The Jackson Laboratory (JAX)coreGenomenon acquired the Clinical Knowledgebase (CKB) from The Jackson Laboratory in May 2024. The acquisition broadened Genomenon's data scope to include both germline and somatic variants, strengthening its position in genome curation for interpreting cancer genomic profiles.
- PharmingmajorPartnership to advance diagnosis of APDS (Activated Phosphoinositide 3-kinase Delta Syndrome), a rare immunodeficiency syndrome. Democratizing access to genetic evidence for earlier diagnosis.
- Boston GeneticscoreGenomenon acquired Boston Genetics in June 2023 to accelerate curation of the human genome. The acquisition brought rapid human genome curation capabilities and expanded Genomenon's scientific team.
- Flagship BiosciencesmajorPartnership to advance biomarker discovery and companion diagnostics development, combining Flagship Biosciences' tissue analysis with Genomenon's genomic evidence platform.
- Three Rare Disease FoundationsmajorPartnership with neurodevelopmental disease groups and rare disease foundations including those focused on BPAN, TK2d, and other rare conditions to advance precision drug development through AI/genomics data sharing.
- Rady Children's Institute for Genomic MedicinemajorLong-standing collaboration on newborn screening by next-generation sequencing. Genomenon curates genes for the BeginNGS newborn screening panel covering 400+ genetic diseases to enable rapid diagnosis and treatment.
- AgilentmajorPartnership to improve genomic variant interpretation by integrating Genomenon's Mastermind search engine into Agilent's workflows, accelerated by NVIDIA GPU computing.
- Don't Forget MorganminorPartnership with Don't Forget Morgan rare disease charity to provide new hope for rare disease patients through variant identification and genomic evidence.
- Inozyme PharmamajorPartnership to advance genetic diagnosis for rare disease patients with ENPP1 deficiency. Genomenon published the ENPP1 deficiency database and developed genomic evidence supporting Inozyme's clinical programs.
- SOPHiA GENETICSmajorMastermind integrated into SOPHiA Platform and Alamut Suite for variant interpretation and genomic analysis.
- CongenicamajorPartnership integrating Mastermind into Congenica's clinical platform for genomic variant analysis and diagnosis support.
- BPAN WarriorsminorPartnership with BPAN Warriors rare disease advocacy organization to find a cure for the ultra-rare neurodegenerative disease BPAN.
- Keck Graduate InstituteminorKeck Graduate Institute launched the Genomics Educators Program with Genomenon to support genomics education and training.
- LifeMap SciencesPartnership integrating Mastermind genomic search engine into GeneCards Suite and TGex platform for genomic research and analysis.
- Shanghai ShanyiminorStrategic partnership to bring Genomenon's leading genomic search engine to the China market through local distribution.
- FluidigmminorPartnership to offer evidence-based genomic panel design services combining Fluidigm's technology with Genomenon's literature-derived variant evidence.
- University of Vermont Health NetworkminorUniversity of Vermont Health Network standardized on Genomenon's Mastermind genomic search engine for clinical variant interpretation.
- Swift BiosciencesminorPartnership to accelerate biomarker selection for targeted NGS panels using Genomenon's literature evidence and Swift Biosciences' sequencing technology.
Scale indicators13 records
Recent moves7 records
Expansion highlights6 records
Genomenon competitors and assessment
Company assessmentDirect peers
- SOPHiA GENETICS: Clinical genomics interpretation platform with AI-driven variant analysis and a broad customer base across hospitals and labs. Directly comparable to Genomenon's Mastermind and Alamut-integrated clinical lab offering, and an existing partner.
- Congenica: Clinical genomic variant interpretation platform used by clinical labs for rare disease and cancer diagnostics. Directly comparable to Genomenon's clinical lab workflow and an existing Mastermind integration partner.
- Fabric Genomics (Fabric Health): Clinical genomics interpretation platform for hereditary disease and oncology. Directly comparable to Genomenon's clinical lab offering and an existing integration partner.
- Golden Helix: Clinical genomics software (VarSeq, VSWarehouse) for NGS variant annotation and clinical reporting. Directly comparable to Genomenon's clinical lab segment, and recently announced a strategic partnership integrating Mastermind.
- DNASTAR: Genomic sequence analysis software used in research and clinical labs. Comparable to Genomenon's variant interpretation offering and an existing Mastermind integration partner.
Broad incumbents
- Illumina: Dominant NGS sequencing platform vendor that also offers DRAGEN secondary analysis and clinical informatics. A broad incumbent with overlapping capabilities in clinical genomics interpretation, and a current Genomenon partner/integrator.
- QIAGEN (QCI / QIAGEN Clinical Insight): Large bioinformatics vendor offering QCI Interpret for clinical variant interpretation and evidence curation. A broad incumbent serving the same clinical lab and biopharma customers as Genomenon.
- Agilent Technologies: Major life sciences instrumentation and genomics software vendor. Comparable as a partner/integrator in clinical genomics workflows and a current Genomenon partner integrating Mastermind with Agilent platforms.
Emerging players
- GenomOncology: Molecular tumor board and oncology genomic reporting platform. Comparable to Genomenon's CKB offerings in somatic interpretation and an existing technology integration partner.
- PierianDx (nference): Clinical genomics informatics platform supporting variant interpretation and reporting. Comparable to Genomenon's clinical lab interpretation offerings.
Market position
Strengths5 records
Weaknesses5 records
Competitive moat6 records
Key risks6 records
Key highlights7 records
Customer concentration
Genomenon social profiles
Digital presenceGenomenon compliance and trust
Trust signalCompliance4 records
Genomenon financial estimates
Financial estimateRevenue estimate
Valuation estimate
Genomenon leadership team
Management profileNumber of profiles
Profiles8 records
Genomenon subsidiaries and ownership
Company hierarchySubsidiaries1 record
Genomenon funding detail
Funding detailFunding overview
Funding rounds10 records
Investors17 records
Funding detail is available on the Subscription and Enterprise plan.Contact sales →
Genomenon M&A and investment
M&A and investmentM&A2 records
Investments
M&A and investment is available on the Subscription and Enterprise plan.Contact sales →
Frequently asked questions about Genomenon
What does Genomenon do?
Genomenon sells AI-driven genomic intelligence software (Mastermind and Cancer Knowledgebase/CKB) that mines 11.2 million full-text biomedical articles and 3.7 million supplemental datasets to surface evidence linking genetic variants to diseases, therapies, and clinical trials. Its 3-step Identify-Structure-Curate workflow combines automated NLP with 100+ scientist curators to produce regulatory-grade variant-level evidence used by clinical diagnostic labs for case sign-out and by biopharma companies for drug label expansion and real-world evidence builds.
Is Genomenon a public or private company?
Genomenon is a private company. It is classified as venture growth investor backed and is currently operating.
When was Genomenon founded?
Genomenon was founded in 2014. It employs 101 to 250 people.
Where is Genomenon based?
Genomenon is headquartered in Ann Arbor, United States, in the North America region.
How does Genomenon make money?
Five revenue lines are on record. Mastermind Software Subscriptions are the primary driver. The others are CKB Software Subscriptions, custom Real-World Evidence (RWE) Builds for Biopharma, genetic Disease Sponsorship and clinical Diagnostic Services.
Who are Genomenon's main competitors?
Direct peers on record are SOPHiA GENETICS, Congenica, Fabric Genomics (Fabric Health), Golden Helix and DNASTAR. Broad incumbents are Illumina, QIAGEN (QCI / QIAGEN Clinical Insight) and Agilent Technologies. Emerging players are GenomOncology and PierianDx (nference).
Does Genomenon have an API?
No public API is recorded for Genomenon.
What industry is Genomenon in?
Genomenon's product category is Clinical Genomics Software. Its primary akta.pro industry code is HLAGAJAD, Bioinformatics & Multi-omics Analysis Software, with a secondary code of HLAGAEAD, Genomics & Molecular Diagnostics (Trial Support). Its NAICS code is 5132 and its SIC code is 7372.