Panel Presentation: Curating the Genome to Drive Precision Diagnosis in Clinical Care

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.

Learning Objectives:

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.