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 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.
By allowing users to find, connect, explore, and understand the links between genomic concepts of interest, the Mastermind Genomic Search Engine has quickly become the essential variant interpretation literature search companion. In this blog, we explore Mastermind’s utility for finding data on gene fusions.
In an exciting new development, the Mastermind Genomic Search Engine has been featured in DNASTAR’s new eBook, 7 Steps for Human Variant Analysis (and How to Automate Them!)