In November of 2023, Mastermind users joined the creators of the Mastermind Genomic Intelligence Platform for a lunch and learning session, where they heard from industry experts and met the Genomenon team. We had the very exciting Mastermind 3.0 update to announce at this event, and we also invited users to get an inside view of the roadmap of things to come.
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Taking Leaps in the Race to Curate the Genome
Mike Klein, CEO, Genomenon
Mike gives an update on Genomenon’s progress in the past year on curating the genome and providing Genomic Intelligence solutions for clinical diagnostic labs and Pharma.
Challenges in the Analysis of Whole Genome Sequencing (WGS) Datasets for the Diagnosis of Rare Diseases in Pediatric Patients
Kai Lee Yap, PhD, FACMG, Ann & Robert H. Lurie Children’s Hospital of Chicago
Whole-genome sequencing (WGS) is a powerful tool for diagnosing rare diseases in pediatric patients. However, a majority of patients remain undiagnosed after testing due to significant gaps in our current analytical approaches. The factors contributing to these gaps are discussed in this presentation.
Mastermind 3.0: Finding a Comprehensive Catalog of Gene Disease Relationships
Britt Jones, PhD, Vp, Product Management & Customer Success, Genomenon
Dr. Jones gives an in-depth walkthrough of Mastermind’s new Gene Information Page, including the 5,500+ gene-level curations and 9,000+ gene-disease relationships that are now available in the Professional Edition.