Diagnostic Perspectives from Lurie Children’s Hospital: The Value of Mastermind in Clinical CNV Interpretation

In a recent webinar, Dr. Kai Lee Yap, Director of Molecular Diagnostics at Lurie Children’s Hospital, speaks with the Genomenon team about how Mastermind is streamlining the variant interpretation process within the Department of Pathology and Laboratory Medicine.

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Mastermind: The Engine Behind the Future of Newborn Sequencing

Last month’s World Orphan Drug Congress brought together more than 250 insightful speakers, including a key leader from Rady Children’s Hospital who focused on the new new BeginNGS™ (pronounced “beginnings”) program, based at the Rady Children’s Institute for Genomic Medicine (RCIGM).

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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.

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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.

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Mastermind Connection: Nostos Genomics AION Platform

Nostos Genomics’ AION is now integrated with the Mastermind Genomic Search Engine. This blog will show how AION users can quickly view Mastermind publication search results within the platform in just a few steps.

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Using Mastermind to Explore Gene Fusion Events

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.

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