Clinical Summits

Part 2: AI-Powered Hereditary Disease Diagnostics: Closing the Gap in Clinical Exome Completeness

November 30, 2023
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 II: Roundtable discussion with genomics experts – November 9, 2023

A panel discussion featuring experts in the field of clinical genomics that will explore the challenges and opportunities in the future of inherited disease diagnostic testing.

For the list of speakers and session information, visit our event page here.

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