Discrepancies in Variant Classifications and How to Resolve Them

Variant classification discrepancies – where clinical laboratories and clinicians/genetic counselors disagree about the clinical meaningfulness of a variant – can impede the accurate diagnosis and subsequent treatment of patients.

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ASHG and ICoNS – Event Recap and Insights from the CSO

Last week, I was in Los Angeles for ASHG. It was great to return in person after the pandemic pause to exchange ideas with industry and academic leaders in genetics. There is something irreplaceable about speaking face-to-face to make real connections and have lively discussions.

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Curating The Human Genome – What It Will Mean and How We Can Make It Happen

The Human Genome Project, begun in 1990 and completed in 2003, was a major breakthrough for clinical genetics – the sequence of the human genome was no longer a mystery.

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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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Accelerating Rare Disease Diagnosis with Genomic Data

Genomenon CEO, Mike Klein, shares how Mastermind’s new Disease-Specific Curated Content is helping clinicians discover new treatment options for rare diseases.

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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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