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Part 1: AI-Powered Hereditary Disease Diagnostics: Closing the Gap in Clinical Exome Completeness

Date: 2023/10/12 Duration: 01:00:00 Presented by:

Clinical exome sequencing (CES) is increasingly being adopted by small and mid-sized laboratories to diagnose genetic diseases, aid treatment decisions, and provide prognostic information. However, the exponential increase in genetic data generated from exome and genome panels poses significant workflow challenges. The ability to prioritize potentially pathogenic variants from large datasets and identify the few candidate variants becomes more difficult. This issue is further amplified in cases where labs must use deep phenotyping of patients and compare that to reference genotype-phenotype knowledge associated with each candidate variant. To overcome these challenges, labs are beginning to implement Artificial Intelligence (AI) in their variant analysis, interpretation and reporting workflows.

Join us for our 2023 Clinical Hereditary Disease Diagnostics Summit, a free-to-attend, two-part event exploring the opportunities and limitations of AI in hereditary disease diagnostics. Designed to help clinical diagnostic labs learn how to safely apply AI to exome and genome sequencing workflows, the content-rich event will feature invited lectures from lab directors and clinical geneticists, thought-provoking discussions on the future of hereditary disease diagnostics, as well as educational presentations on the latest databases and AI-powered software for germline secondary and tertiary analysis.

Part I: Educational talks – October 12, 2023

An education session exploring the latest databases, software, and services for germline secondary and tertiary NGS analysis. Topics will include:

How labs can achieve clinical exome completeness with AI-enriched and manually curated content
How labs can apply enhanced phenotype-driven ranking in clinical cases
How labs can safely use a “smart” approach to AI to reach the best possible chance of reaching a diagnosis