OmicsDiscoveries GmbH

What OmicsDiscoveries GmbH does

OmicsDiscoveries GmbH is a Munich-based (Planegg) bioinformatics company spun out of the Technical University of Munich in 2024, commercializing a decade of rare-disease computational genomics research from Prof. Julien Gagneur's group. The company's core product is RNAvision, a cloud-based SaaS platform that ingests patient RNA sequencing data together with DNA variant calls (VCF) and HPO clinical phenotypes to detect aberrant gene expression and splicing and prioritize disease-causing variants in rare disease diagnostics. The analytical engine combines three proprietary, peer-reviewed statistical/ML methods — the OUTRIDER autoencoder-based aberrant expression detector, the FRASER 2.0 intron Jaccard index splicing detector, and the DROP modular workflow published in Nature Protocols — and won the NIH-funded CAGI 6 SickKids challenge.

OmicsDiscoveries monetizes through quote-based enterprise SaaS subscriptions and usage fees on RNAvision, supplemented by custom research project services (RNA analysis, molecular diagnostics support, genetic counseling) delivered alongside a strategic partnership with MGZ (Medizinisch Genetisches Zentrum). Its go-to-market is enterprise and science-led: direct outreach to clinical genetics labs, healthcare providers, and rare-disease research consortia, validated by named deployments at Solve-RD, the Undiagnosed Diseases Network, Baylor College of Medicine, ERDERA, Karolinska Institutet, Broad Institute, Mayo Clinic, UCL, Mount Sinai, Sick Kids, Genomics England, Australian Genomics, and University Hospital Tübingen. Distribution is global across Europe, North America, and Asia-Pacific, though the underlying tools are open source on Bioconductor while RNAvision represents the commercial SaaS layer wrapping them.

The company is founder-owned with no disclosed external institutional investors, three co-founders serving as Managing Directors (Felix Brechtmann as COO, Dr. Vicente Yépez as CSO, Dr. Christian Mertes as CTO), and a sub-50 headcount currently expanding across cloud engineering, marketing, and product. All products are labeled for research use only, with molecular diagnostic services routed through licensed partners; GDPR compliance is verified via the heyData seal. The firm is housed at the BioM biotech incubator campus in Planegg and is supported by TUM Venture Labs.

Name

OmicsDiscoveries GmbH

Legal name

OmicsDiscoveries GmbH

Website

https://omicsdiscoveries.com

Company type

Private

Founded year

2014

Operating status

Operating

Headcount range

1–10 employees

Short description

OmicsDiscoveries GmbH, spun out of TU Munich in 2024, sells RNAvision, a cloud-based SaaS platform that combines proprietary OUTRIDER, FRASER, and DROP algorithms to detect aberrant gene expression and splicing, prioritizing rare-disease variants for clinical genetics labs, rare-disease researchers, and consortia across Europe, North America, and Asia-Pacific.

Ownership category

akta.pro rank

Product category

Bioinformatics Software

NAICS

Software Publishers (5132), Computing Infrastructure Providers, Data Processing, Web Hosting, and Related Services (5182)

SIC

Services-Prepackaged Software (7372), Services-Computer Programming, Data Processing, Etc. (7370)

akta.pro primary industry

Bioinformatics & Multi-omics Analysis Software (HLAGAJAD)

akta.pro secondary industries

Bioinformatics, Multi-Omics Data Analysis & Interpretation Services (HLAGANAI), Multi-Omics Precision Medicine Platforms (genomics/proteomics/metabolomics) (HLAAANAF), Transcriptomics & Gene Expression Profiling Services (HLAGANAE)

Keywords

• RNA sequencing analysis
• Rare disease diagnostics
• Bioinformatics software
• Variant interpretation
• Clinical genomics

Headquarters

HQ city

Munich

HQ country

Germany

HQ region

Europe

Offices1 record

Markets served

GTM type

B2B

Offering type

Software

Cost components

Technology or R&D, Personnel, Operations, Marketing or Sales, Infrastructure

Revenue model

1. RNAvision SaaS Platform: Cloud-based RNA-seq analysis platform offered as a subscription or usage-based service. Customers upload raw RNA sequencing data and receive analysis results through the interactive RNAvision platform. The platform is designed for research use in rare disease diagnostics.
2. Research Project Services: Expert support for RNA-related research projects including experimental design, custom analyses, data visualization, and scientific insights. Tailored consulting services for research questions beyond standardized analysis.

Pricing tiers

Go-to-market motion2 records

Distribution channels4 records

Marketing channels6 records

Core offering

OmicsDiscoveries GmbH provides RNAvision, a cloud-based SaaS platform for RNA sequencing (RNA-seq) analysis that prioritizes disease-causing variants by integrating genotypes, RNA results, and clinical phenotypes. The platform is built on proprietary statistical algorithms (OUTRIDER, FRASER, and DROP) developed by the founding team, and is used by clinical genetics labs and rare disease researchers to convert variants of uncertain significance (VUS) into actionable diagnostic findings.

Product overview

OmicsDiscoveries GmbH offers RNAvision, a cloud-based SaaS platform for RNA-seq analysis, alongside complementary services including RNA Analysis, Genetic Counseling, Molecular Diagnostics, and RNA Sequencing. The platform integrates proprietary statistical methods and algorithms (OUTRIDER, FRASER, and DROP) developed by the founding team to detect aberrant gene expression and splicing events. RNAvision provides an end-to-end solution that seamlessly integrates genotypes from VCF files, RNA-seq results, and clinical phenotypes (including HPO terms) to prioritize disease-causing variants, improving diagnostic yield by up to 15% for rare disease patients.

Differentiator

Problem solved

Functional benefit

Brands

• RNAvision: Cloud-based SaaS platform for the analysis of RNA sequencing data that prioritizes variants by leveraging complementary information from RNA-seq and clinical data.

Products and services

• RNAvision Cloud-based SaaS platform for RNA-seq analysis that integrates genotypes, RNA results, and clinical phenotypes to prioritize disease-causing variants. The interactive platform enables users to detect outliers in gene expression and splicing with just a few clicks, designed for clinical geneticists and rare disease researchers.
• RNA Analysis Advanced RNA sequencing analysis service using proprietary statistical methods (OUTRIDER, FRASER, DROP) to detect aberrant gene expression and splicing events, transforming variants of uncertain significance into actionable findings. Tailored for clinical genetics labs and rare disease research projects.
• Genetic Counseling Expert support services for interpreting genetic findings and their relation to patient diseases, helping clinicians understand and communicate diagnostic results.
• Molecular Diagnostics Diagnostic services leveraging RNA-seq to provide molecular-level insights into rare diseases, improving variant interpretation and diagnostic yield. Provided in collaboration with MGZ (Medizinisch Genetisches Zentrum).
• RNA Sequencing RNA sequencing services with recommended poly(A)-enriched protocol to assess mRNA products, enabling direct measurement of variant effects at the transcript level.
• OUTRIDER Statistical method/algorithm for detecting aberrantly expressed genes in RNA sequencing data. Uses an autoencoder to model read-count expectations and identifies outliers significantly deviating from expected distributions. Available open-source via Bioconductor.
• FRASER Algorithm for detecting aberrant splicing from RNA sequencing data, capturing both alternative splicing and intron retention events. Automatically controls for latent confounders, reducing false positives by two orders of magnitude versus z-score cutoffs.
• DROP Modular computational workflow integrating analysis steps for aberrant expression, aberrant splicing, and mono-allelic expression detection. Generates browsable web page reports and is deployed across international research institutions including Karolinska, Broad Institute, UCL, and Mayo Clinic.

Quantifiable outcome

• 15% average increase in diagnostic yield using RNA-seq complement to DNA sequencing
• +5 more outcomes

Named customers14 records

Segments3 records

Ideal customer profiles3 records

Technology focussed Yes

API detail

Has API

No

API docs

API detail

Core technology

AI maturity

App detail

Integration1 record

AI capability5 records

Feature5 records

Partnerships

Eight partnerships are on record, tiered core, support and minor.

• MGZ (Medizinisch Genetisches Zentrum)coreStrategic or Co-development PartnerFull product suite partnership combining sequencing and medical diagnostics services together with MGZ for comprehensive genetic disorder diagnosis.
• Solve-RD ConsortiumcoreStrategic or Co-development PartnerPan-European consortium for rare disease research. OmicsDiscoveries tools (OUTRIDER, FRASER) used for standardized transcriptome analysis across 521 RNA-seq samples from 30+ clinics and 5 European Reference Networks.
• Undiagnosed Diseases NetworkcoreStrategic or Co-development PartnerInternational network of researchers and clinicians focused on undiagnosed diseases. Contributed to diagnoses within 16 hours during hackathons using RNA-seq analysis.
• VentureLabs / TUM Venture LabssupportOthersTUM spin-off incubator supporting the company's formation and growth as a startup emerging from Technical University of Munich.
• BioM Biotech ClustersupportOthersBiotech incubator located at Am Klopferspitz in Planegg, Germany, where OmicsDiscoveries is headquartered (c/o BioM).
• Prof. Dr. Julien GagneurcoreStrategic or Co-development PartnerAdvisor; Chair for Computational Molecular Medicine at Technical University of Munich; led the research group where founding team developed core technologies.
• Prof. Dr. Thomas MeitingerminorStrategic or Co-development PartnerAdvisor; Former Director of the Institute of Human Genetics at Klinikum rechts der Isar, Munich; provides clinical genetics expertise.
• Dr. Michael WittingerminorStrategic or Co-development PartnerAdvisor; Chief Business Officer at Platomics; provides business development and commercialization expertise.

Scale indicators6 records

Recent moves7 records

Expansion highlights5 records

Market position

Competitive moat4 records

Key risks6 records

Key highlights6 records

Customer concentration

• LinkedInlinkedin.com/company/omicsdiscoveries

Compliance2 records

Revenue estimate

Valuation estimate

Number of profiles

Profiles6 records

Funding overview

Funding rounds

Investors

Funding detail is available on the Subscription and Enterprise plan.Contact sales →

M&A

Investments

M&A and investment is available on the Subscription and Enterprise plan.Contact sales →

Frequently asked questions about OmicsDiscoveries GmbH