Myriad Genetics’ Dr. Catherine Dy joins the architects of Mastermind for this special Masterclass.
The Mastermind Genomic Search Engine was created to make it easy to find relevant genomic insight from the medical evidence. In the tug-of-war between Sensitivity and Specificity, Genomenon’s approach has been to first maximize sensitivity, and then optimize specificity within the scope of maximal sensitivity for the most efficient workflows and the best results.
Myriad’s Dr. Catherine Dy will join Genomenon co-founders Dr. Mark Kiel and Steve Schwartz as they discuss how Mastermind optimizes specificity and then sensitivity when searching for insight into patient variants and resolving VUSs for optimal diagnostic yield. This approach provides insight for users to quickly validate (or invalidate) the search results. Catherine will also demonstrate how Myriad uses Mastermind to meet their goals of increasing diagnostic yield and accelerating diagnosis.
Join us for the live discussion and Q&A that follows.
You will learn:
- Best practices for genomic search to resolve Variants of Uncertain Significance (VUS) following AGMG guidelines
- Best practices when searching Mastermind to first maximize sensitivity, then strategically dial in the specificity of the search results
- How Mastermind continues to improve specificity for variants with less discrete biological effects, such as non-coding variants
- How clinical reference labs have optimized these trade-offs from a practical perspective in their clinical workflows, with real-world examples from Myriad Genetics
ABOUT THE SPEAKERS:
Dr. Catherine Dy, Clinical Genomics Scientist II – Myriad Genetics
Catherine is a Ph.D. level scientist specializing in biochemistry and structural biology, working on genetic variant classification.
Dr. Mark Kiel, Chief Science Officer – Genomenon
Mark Kiel completed his MD Ph.D. and Molecular Genetic Pathology Fellowship at the University of Michigan, where his research focused on stem cell biology, genomic profiling of hematopoietic malignancies, and clinical bioinformatics. He is the founder and CSO of Genomenon, where he supervises the scientific direction of the Mastermind suite of software tools.
Steve Schwartz, Chief Technology Officer – Genomenon
Steve is the CTO of Genomenon and key developer of the Mastermind technology. Steve is an engineer, developer, and open source software enthusiast. He co-founded several successful web-based software start-ups and brings deep domain expertise and extensive experience to the team.