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.

Read more

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.

Read more

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.

Read more

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.

Read more

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.

Read more

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.

Read more