In November, the Genomenon team met with attendees at the ASHG Annual Meeting 2023 to give demonstrations of the Mastermind Genomic Intelligence Platform, and announced the exciting release of Mastermind 3.0. The new Gene Information Page provides curated gene info for 5,500+ genes and 9,000+ gene-disease relationships.
Watch Dr. Mark Kiel’s CoLab presentation below for more information on the science behind the update.
Understanding Gene-Disease Relationships: a Novel and Actionable Approach
Increasing use of large gene panels, clinical exomes, and full genomes for diagnosis of rare genetic diseases has created a strain on molecular diagnostics labs to analyze and interpret these data. Outside of the large volume of data produced as a result of using these assays, there is a need to appreciate a wider array of gene-disease relationships (GDRs) to accommodate a more diverse set of diseases.
There are structured frameworks for understanding these GDRs but identifying, organizing, annotating, and interpreting these data is a time-consuming, manual task that requires significant expertise to do properly. In this talk, founder and CSO Mark Kiel, MD, PhD, will discuss this growing need, describe some of the challenges, preview how the Mastermind Genomic Search Engine will solve them at scale, and showcase the application of this information through example.
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