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.
Mastermind: The Engine Behind the Future of Newborn Screening
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).
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.
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.
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.
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.