A New Lens in Rare Disease Diagnostics

This lunch session explores MyOme’s reframed approach to rare disease diagnosis, highlighting how integrating methylation signatures alongside genomic sequencing can reveal diagnostic insights missed by sequence data alone. Speakers will demonstrate how complementary modalities—including long-read sequencing—can improve interpretation, resolve challenging cases, and change how we think about diagnostic pathways in rare disease. Attendees will leave with practical perspectives on when and how these approaches can be applied in clinical genomics.

Lunch will be provided.

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Host or Publisher MyOme