The speakers will discuss how to surmount obstacles related to translating sequencing data into actionable results, and propose curated variant content shared with the clinical community as a novel approach for accelerating rare disease diagnostic workflows and connecting patients to clinical studies and approved therapies.
1. Identify how a combination of AI-based indexing and expert, manual review is used to produce disease-specific curated content.
2. Summarize the clinical characteristics, diagnosis, and clinical testing for ENPP1 Deficiency.
3. Examine how integration of disease-specific curated content into the variant interpretation workflow can increase diagnostic and treatment rates.