Mastermind®
Simplify gene and variant curation with Mastermind®
Immediate insight into millions of scientific articles from medical literature
At Genomenon, we developed Mastermind to simplify variant interpretation by providing immediate insight into millions of prioritized scientific articles from the primary medical literature.
Mastermind is a novel analytic and visualization tool that accelerates gene and variant curation by providing immediate insight into millions of prioritized scientific articles from the primary medical literature. It delivers a comprehensive knowledge base of disease-gene-variant relationships curated from primary medical literature, organized into clinical categories, and prioritized by the strength of disease-associations through our automated platform and algorithms.
The challenge facing many curators is that only a small fraction of the disease-gene-variant relationships found in the full text of the scientific publications are captured in the titles or abstracts that PubMed searches. Mastermind solves this problem by finding and prioritizing the primary literature for any given disease-gene-variant combination found through its full text search of over millions of articles. This reduces the time pathologists and geneticists spend searching for articles for variant curation by up to 80%.
For example, in a recent project with an academic healthcare provider, Mastermind identified more than 459,586 variants in 145 cancer-related genes whereas PubMed identified only 34,386 variants for the same cancer related genes.
Beyond variant curation for clinical diagnostics in cancer and genetic diseases, Mastermind can be used to comprehensively organize the evidence behind gene-disease relationships for panel design – useful to provide scientific evidence to justify gene coverage to insurance payers. Mastermind also delivers real-time updates as new evidence through publications becomes available, making patient look-backs and variant discovery easier.
Find disease-gene-variant associations by significance from medical sources
Powered by our comprehensive meta-database built from:
Full-text Publications
&
3rd-party Databases
Additional Resources
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Frequently Asked Questions
and Technical Support
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Mastermind Quick Start Guide
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The Quick Start Guide will walk you through the basics of the Mastermind web-based software application
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Mastermind Use Case Scenario - Search by Disease
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This application example shows you how to find genes associated with a specific disease and all the literature mentioning the disease-gene association
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Mastermind Use Case Scenario - Search by Gene
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This application example shows you how to find diseases and variants associated with a particular gene
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Mastermind Use Case Scenario - Search by Variants
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This application example shows you how to search for all publications associated with a specific genetic variant
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Mastermind Use Case Scenario - Finding Related Variants
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This application example shows you how to use Mastermind to find related variants to understand the biological impact of a VUS that may not be described in literature
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Mastermind Use Case Scenario - Advanced Search
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This application example shows you how to use the advanced search features to get the most out of Mastermind