Clinical Diagnostics USES

Never Miss a Diagnosis

Laboratories disagree on a variant’s classification nearly half of the time, with a quarter of those discrepancies being clinically impactful. Access to comprehensive evidence is critical for proper diagnosis.

10 Million
Publications Indexed
8,500
Genes Curated in Mastermind & CKB
100+
Genetic Scientists

Understand the genetic basis of diseases for more accurate diagnoses, risk assessments, and tailored treatment strategies.

Identify specific genetic markers to guide informed clinical decision-making with the Mastermind  Genomic Intelligence Platform.

Find valuable information that connects cancer variants to therapies and clinical trials.

“Genomenon’s essential role in curating actionable genomic information and making it easily accessible from the Mastermind knowledgebase is critical to making newborn screening for a broad set of rare diseases a reality.”
Dr. Stephen Kingsmore, President & CEO, Rady Children’s Institute for Genomic Medicine

Efficiently manage and analyze large volumes of genomic information with automated workflows for data analysis, variant calling, interpretation and identification of relevant clinical trials.

  • Reduce turnaround times and enhance overall diagnostic efficiency
  • Streamline workflows by rapidly triaging variants to focus on known disease-causing gene, and query and access updated evidence- based information on therapeutic interventions
"We looked for the best tools to accelerate literature curation and found there is no comparable solution in the market like Mastermind."
James Hirmas, CEO, GenomeNext

Empower your variant interpretation team to be even more efficient through our rapid on-demand evidence curation and variant classification services.

  • Increase efficiencies that lower costs and decrease turnaround time
  • Focus on faster patient diagnosis and improved treatment outcomes
  • Access high-value, cost-effective solutions that enhance lab efficiency and productivity

Impacting Top Research Institutions and Hospitals

Case Study

Genomenon and BeginNGS: The Promising Future of Newborn Sequencing

Improving infant patient outcomes by providing clinicians with powerful insight
Case Study

Mastermind Story: Rady Children’s Institute for Genomic Medicine

Mastermind Uncovers Baby’s Rare Immunodeficiency
Case Study

Unlocking Real-Time Precision in Variant Interpretation and Literature Discovery

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Our Offerings for Clinical

mastermind application

Software

Access article information on more than 26 million variants, as well as curated germline variant content.

Meet Mastermind

Our Cancer Knowledgebase is used to interpret cancer variants, connecting them to therapies and clinical trials.

Meet CKB

Data

Gain access to an expansive, constantly updated database of curated and indexed genomic information. This resource is essential for informed research and clinical-decision making, offering a wealth of gene-disease associations and variant data.

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Clinical Diagnostic Services

Our expert team provides consulting services to support your genomic projects. From custom variant analysis to clinical trial support and regulatory guidance, we ensure you have the expert insights needed for your specific genomic challenges.

Learn more about how we work with clinical diagnostics labs and leading research institutions to make genomic evidence actionable.