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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ClinVar in Mastermind

The latest update to Mastermind has integrated ClinVar, a public database of clinically observed variants and their pathogenicity interpretations by the clinical labs that submitted the variants. This can often serve as a quick jumping off point for deciding to further investigate a given variant based on the evidence provided in Mastermind.

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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.

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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.

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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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