Last week, I was in Los Angeles for ASHG. It was great to return in person after the pandemic pause to exchange ideas with industry and academic leaders in genetics. There is something irreplaceable about speaking face-to-face to make real connections and have lively discussions.
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.
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).
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.
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.