Genomenon, Ann Arbor, Mich, announced that the latest release of the Mastermind Genomic Search Engine includes Copy Number Variation (CNV) search. Since 5% to 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 variations are a vital component of 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 They are highly heterogeneous, and current genetic databases are difficult to navigate and contain limited or outdated information.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 will present a Mastermind Masterclass on the new CNV search capability on Thursday, October 15, 2020. To learn more and register, visit Genominon Registration.
For more information about the Mastermind Genomic Search Engine, visit Genomenon.