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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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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Curating The Human Genome – What It Will Mean and How We Can Make It Happen

The Human Genome Project, begun in 1990 and completed in 2003, was a major breakthrough for clinical genetics – the sequence of the human genome was no longer a mystery.

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Curation of the Entire Human Genome Requires the Best of Both Human and Artificial Intelligence

Earlier this month, I wrote an opinion article for Technology Networks on how a combination of both human and artificial intelligence technologies have the potential to expedite curation of the entire human genome – and how Genomenon is uniquely suited to address this important challenge.

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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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