Clinical Diagnostics USES

Turn insights into action – fuel informed decisions, better outcomes and personalized care

Nearly half of genetic variants are classified differently by labs — and 25% of those disagreements can affect patient care. Resolve these challenges with access to full, reliable evidence.

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10.5+ Million

Full Text Publications

3.7+ Million

Supplemental Text

9,000+

GDRs

27+ Million

Variants

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

Uncover insights on genetic markers, empowering your clinical decision-making abilities guiding you in every step of your patient care.

Learn about Mastermind

Discover critical information linking cancer variants to targeted therapies and clinical trials. Empower clinicians and diagnosticians to make faster, more informed decisions and accelerate personalized treatment options for your patient.

Learn about CKB

A pediatrician using a stethoscope on a patient to diagnose and treat them.

“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

Learn more

A group of genomic researchers looking at genomic articles in a clinical lab.

"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

Learn about our Services

An image of the code behind our AI that supports our genomic database.

“I feel like my curation work will actively make a difference in patients with genetic disease.”

Jessica Bugarin, MS, Curation Scientist II at Genomenon

Impacting Top Research Institutions and Hospitals

Case Study

Unlocking Real-Time Precision in Variant Interpretation and Literature Discovery

Lurie Children’s Hospital integrated Genomenon’s Mastermind solution in their molecular diagnostics lab enabling faster variant interpretation through real-time literature access
This facilitated detection of complex genetic variants, including whole gene deletions leading to more accurate patient diagnosis and improved outcomes
Reclassified variants from VUS to pathogenic using up-to date evidence
Mastermind’s ability to quickly incorporate newly published research quickly ensures timely updates to variant classification and ongoing advancements in genetic research and clinical diagnostics

Read the Case Study

Case Study

Accelerating Cancer Diagnostics: How CKB Powers Automated Genomic Interpretation

Hartwig Medical Foundation leveraged Genomenon’s CKB solution to automate and standardize genomic variant interpretation
Integrating CKB within their workflow accelerated diagnostic turnaround, and enhanced clinical trial matching across multiple hospitals
Enabled same-day completion of manual report reviews, a task that previously took 24 hrs or more
Increased patient confidence in comprehensive genomic analysis and treatment options

Read the Case Study

Case Study

Mastermind in Action: Improving LGMD Patient Outcomes

Mastermind accelerated accurate Limb-Girdle Muscular dystrophy (LGMD) variant identification for complex cases
Comprehensive literature search enabled discovery and confirmation of pathogenic variants, potentially missed
Improved diagnostic precision led to better patient outcomes and access to effective therapies
Mastermind empowered the Foundation’s missions - supporting advocacy, research, and patient care - by facilitating data consolidation and research collaboration

Read the Case STudy

Trusted by Industry Leaders Including

Our Offerings for Clinical

Computer with the Mastermind platform showing genomic articles and variants

Software

Mastermind Genomic Intelligence Platform

Access actionable insights from genomic literature on more than 27 million variants, as well as curated germline variant content to aid clinical decision making.

Meet Mastermind

Cancer Knowledgebase (CKB)

Genomenon's 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.

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Talk to a Genomenon expert.

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Clinical Diagnostics

Precision Therapeutics

Software Solutions

Services

Data

Turn insights into action – fuel informed decisions, better outcomes and personalized care

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

“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.”

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

"We looked for the best tools to accelerate literature curation and found there is no comparable solution in the market like Mastermind."

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

“I feel like my curation work will actively make a difference in patients with genetic disease.”

Impacting Top Research Institutions and Hospitals

Unlocking Real-Time Precision in Variant Interpretation and Literature Discovery

Accelerating Cancer Diagnostics: How CKB Powers Automated Genomic Interpretation

Mastermind in Action: Improving LGMD Patient Outcomes

Trusted by Industry Leaders Including

Our Offerings for Clinical

Software

Data

Clinical Diagnostic Services

Learn more about how Genomenon is making genomic information actionable and supporting clinical diagnostic laboratories with patient diagnosis.