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