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Genomenon Releases Copy Number Variation (CNV) Search to Enhance Genomic Interpretation

October 13, 2020 ANN ARBOR, MI

Genomenon Releases Copy Number Variation (CNV) Search to Enhance Genomic Interpretation

Latest Addition to the Mastermind Genomic Search Engine will Further Accelerate Clinical Workflow

Genomenon® announced today that the latest release of the Mastermind® Genomic Search Engine includes Copy Number Variation (CNV) search. Since 5-30% of genetic disease is caused by deletion or duplication of genomic material, this new functionality will further accelerate diagnosis and interpretation of results for patients with genetic disease.

This new update furthers Genomenon’s ability to catalogue a complete dataset of all “Genomic Associations” supported by medical evidence. These associations help clinical labs more accurately and rapidly diagnose patients, and pharmaceutical companies make ground-breaking discoveries in the effective treatment of cancer and genetic diseases. Mastermind was launched in 2017 with the ability to uncover associations between diseases, genes, and variants, and has since added ACMG/AMP classification, phenotypes, therapies, and now CNV associations. Each new component of association data increases the power of Mastermind to enable users to find genetic evidence, test or generate hypotheses, and draw clinical conclusions with confidence.

Copy-number variants (CNVs) are a vital component to any clinical interpretation pipeline. They are highly heterogeneous, and current genetic databases are difficult to navigate and contain limited or outdated information. This makes interpretation of CNVs extremely challenging and time-consuming. In addition, the evolving and inconsistent nomenclature for CNV reporting over time has created significant challenges in searching for evidence in the literature, which can result in missing information relevant to diagnosis and interpretation.

This new feature in the Mastermind Genomic Search Engine allows users to identify CNV citations from full-text articles no matter how authors have described them, and to discover how they are associated with clinical diseases and phenotypes.

Genomenon co-founders, Dr. Mark Kiel & Steve Schwartz presented a Mastermind Masterclass on the new CNV search capability on Thursday, October 15, 2020. Watch the webinar recording.


Genomenon is a genomics intelligence company dedicated to improving the quality of life of genetic disease and cancer patients by making genomic information actionable. Blending the power of AI with the precision of genomic expertise, the company empowers pharmaceutical companies and the clinical diagnostic community with empirical genomic evidence and insights that both support the development of novel therapeutics and speed diagnostic assessments and treatment recommendations.

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