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.

9.5 Million
Publications Indexed
Genes Curated
Gene-Disease Relationships Curated

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.
• Provide more informed decision-making for both healthcare professionals and patients.

“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.

Get all of the information you need for clinical interpretation and variant classification.

• Query using Mastermind's flexible and intuitive search interface to achieve precise variant identification.
• Access details about manually-curated gene-disease relationships, variant types, pathogenicity, and gene summaries all in one place.

“In our experience, the usage of such a real-time search tool (Mastermind) with these variant-specific search capabilities was key and has definitely positively impacted our diagnosis of cases that we encounter in the clinical lab.”
Kai Lee, Director of Molecular Diagnostics, Ann & Robert H. Lurie Children’s Hospital of Chicago

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

• Reduce turnaround times and enhance overall diagnostic efficiency.
• Streamline workflows by rapidly triaging variants to focus on known disease-causing genes.

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


A cutting-edge software solution, Mastermind harnesses the power of AI to analyze and interpret vast genomic datasets, offering unparalleled insights at the variant and gene level, helping you speed your workflow.

Meet Mastermind
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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.

Somatic Knowledgebase

Empower your team to interpret complex cancer genomic profiles. Our somatic software and data resources save time and find valuable information that connects cancer variants to therapies and clinical trials.

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