Curation of the Entire Human Genome Requires the Best of Both Human and Artificial Intelligence

Earlier this month, I wrote an opinion article for Technology Networks on how a combination of both human and artificial intelligence technologies have the potential to expedite curation of the entire human genome – and how Genomenon is uniquely suited to address this important challenge.

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OUR RARE STORIES | Rare Disease Day 2022

In honor of Rare Disease Day February 28, 2022, we are excited to present Genomenon’s “Our Rare Stories” Live Blog, where we will be compiling articles, informative webinars, press releases, and other compelling resources that all play a part in highlighting the inspiration for our mission—patient stories.

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Rapid Variant Interpretation with the Mastermind Relevancy Score

The key to rapid and accurate literature curation for clinical interpretation and therapeutic discovery is standardizing and optimizing the review process. The Mastermind Genomic Search Engine meets this need with a collection of sophisticated algorithms that prioritize search results by relevance. This proprietary process is called the Mastermind Relevancy Score.

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Top Three Benefits of Locus-Specific Patient Databases for Rare Disease

In a recent webinar, Genomenon’s chief scientific officer Dr. Mark Kiel was joined by Dr. Gus Khursigara, VP of Medical Affairs and Clinical Strategy at Inozyme Pharma. This blog explores three key benefits of locus-specific patient databases (or Patient Landscapes), and how they are helping Inozyme better understand and target rare diseases.

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Mastermind Updates: Search Companion

We have just released a major update to Search Companion, our Chrome extension for Mastermind. Key elements of this enhancement include functionality on eight new platforms, a more intuitive interface with deeper data, plus access is now available to all Chrome users, including those without a Mastermind account.

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New Diagnostic Tool in Mastermind: Disease-Specific Curated Content

Disease-Specific Curated Content, now available to everyone in the Mastermind Genomic Search Engine, presents comprehensive and expertly curated variant data to provide clinical diagnostic labs with certainty, consistency, and confidence. This blog will guide you through the key benefits of this new offering, including an informative video tutorial.

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