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.
Don’t Miss Variants: Upgrading From the Cited Variants Reference to the Mastermind API
In this blog, chief technology officer Steve Schwartz describes the limitations of the Mastermind Cited Variants Reference (CVR) that affect genomic analyses, and how the integration of Mastermind’s API can help surmount them.
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.
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.
Guest Blog: Don’t Forget Morgan – Elle’s Story
In June of 2016, I sat with my husband in a doctor’s office awaiting the results of genetic testing that had been performed on our daughter, Elle. Elle was five at the time and had struggled with global developmental delay, particularly speech and language development, since birth.
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.