Genomic Intelligence
for Genetic Disease and Cancer

Transforming Complex Genetic Data into Actionable Insights

Genomic Intelligence Solutions
for Precision Medicine

Partner with Genomenon to get the genomic Intelligence you need to support every stage of your precision medicine pipeline – from biomarker discovery and translational testing to clinical trials and regulatory submissions.
High-throughput technologies have transformed how we research the roles of genes and other biomolecules in the context of disease. But the sheer volume of data being produced also complicates the process of identifying relevant rare disease information and actionable insights.
Genetic evidence from the scientific literature can help you prioritize features that might otherwise be lost in big data. If you’re grappling with the Herculean task of aggregating genomic data for your rare genetic disease program, talk to Genomenon.

Reinforce the Foundation of your Precision Medicine Program with Genomic Intelligence

Genetics is complex — and gene name errors and inconsistencies in naming variants makes aggregating genomic evidence from the literature tedious and time consuming. You don’t have to do it alone. Put Genomenon to work for you.
Genomenon specializes in the mining, analysis, and interpretation of genetic evidence for rare genetic diseases and cancer. Partner with us to:
  • Leverage an unbiased, independent team of genomic experts, who can support every phase of your drug program — from validating disease prevalence and market potential to determining inclusion criteria for clinical trials and collecting evidence for regulatory submissions
  • Get rapid access to the precise genomic knowledge needed to support evidence-based decisions on rare disease and cancer drug programs
  • Extend your internal resources with a team of genomic experts and eliminate the time-sucking tedium of deep genomic data analysis needed to support rare disease and cancer programs

The Elements of Genomic Intelligence

An Unrivaled Genomic Evidence Platform

Our AI-powered knowledgebase, which encompasses the whole body of empirical genomic evidence, has a built-in genomic search engine that quickly reveals the subset of genetic data needed at each phase of drug development.

Bespoke Genomic Data Services

Our tech-enabled genomic scientists are laser-focused on genetic disease and cancers. They not only speak the language of genetics, but also understand the unique challenges and requirements of your genetic disease programs.

An Invaluable Genomics Partnership

Our collaborative approach is strengthened by our bench-to-bedside perspective gleaned from our years of experience supporting the needs of pharma/biotech and clinical diagnostics labs around the world. We understand what genomic information and support you need.

Genomenon Genomic Intelligence Applications

Independent Genetic Disease Assessment

• Get unbiased, evidence-based insights to rapidly assess your disease market
• Validate rare genetic disease prevalence estimates with up-to-date supporting evidence and population data

Rapid Retrospective Natural History Studies

• Quickly identify endpoints backed by evidence to inform prospective NHS and clinical trial design
• Expand disease understanding at the patient level

Genetic Inclusion Criteria for Clinical Trials and CDx

• Optimize genomic profiles for label expansion for CDx
• Increase confidence in genetic inclusion criteria
• Eliminate time-consuming, tedious tasks and focus on finding the right patients to include in clinical trials

Global Disease Diagnostic Awareness

• Increase diagnosis of genetic disease and cancer patients
• Increase awareness of your clinical trials at point of diagnosis
• Get actionable market insights for your drug in the clinical community

Expert Genomic Data Consulting

• Get independent third party guidance and validation for regulatory submissions, publications, and case interpretation
• Extend your team with access to genomic scientists to support every phase in your drug development pipeline

Mastermind® Genomic Evidence Platform

Mastermind for Genomic Evidence Mining

• Gain access to the definitive AI-powered platform for mining full-text papers in the scientific literature for published evidence
• Eliminate the tedium of literature searches and quickly identify relevant papers without having to read each one
• Simplify and speed up search and analysis

Mastermind API for Genomic Evidence Mining

• Integrate the Mastermind Genomic Search Engine into your bioinformatics pipeline
• Automate hypothesis generation and testing
• Focus your search to quickly find relevant papers with an AI-driven Genomic Language Processing search engine
• Annotate your genomic data with literature evidence at scale

Pre-Curated Gene Specific Variant Databases

• Get a comprehensive report on your gene of interest clinically relevant gene variants and associations between entities (e.g., disease, phenotype, assay, gene, variant, etc.)
• Save months of research time with access to expertly curated, ready-to-use datasets
• Make informed decisions about your drug program faster

Discover how you can supercharge your genetic disease and cancer drug development with genomic intelligence.


Expanding Clinical Trial Inclusion Data
Learn about how our unique AI-powered curation process delivers new insights into pathogenic variants in patients – and how these information can be used to increase trial enrollment
(3:42 read)

Accurately Estimating Rare Disease Prevalence
Inozyme Pharma partnered with Genomenon to get a more accurate estimate of ENPP1 Deficiency prevalence. Our findings revealed it is more than 3x more prevalent thant previously found (14:00 read)

Navigating Global Regulatory Approvals
Loxo@Lilly partnered with Genomenon to identify and confirm activating RET gene variants associated with rare cancers for submission to the Japanese regulatory Authority PMDA (56:00 watch)

Put genomic intelligence to work for you.