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.
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.”
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.”
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
Trusted by Industry Leaders Including
Our Offerings for Clinical
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.
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.
