Last week, the Genomenon team hosted its inaugural User Group Meeting in Salt Lake City. For us, this highly anticipated gathering of Mastermind users was truly special as it marked the beginning of an exciting new tradition of learning and collaboration.
For Rare Disease Day 2023, we celebrate 10 pharma and biotech companies that are working on cures and novel treatments for rare disease patients.
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.
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.
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.