Platform Session C (non-accredited)
20 Mar 2025
Meeting Room:
Petree Hall D
Clinical Genetics and Therapeutics
,
Laboratory Genetics and Genomics
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Accredited:
- Not Accredited
Agenda
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12:00 PM – 1:00 PM -
Resolution of large complex VNTRs with HiFi sequencing: applications in LPA Kringle IV-type 2 repeat and D4Z4 repeat -
Multiscore, a Gene Ranker Powered by Artificial Intelligence and Real-World Clinical Data, Shows High Sensitivity in 10,000 Exomes and Genomes.
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VUS subcategorization in a points-based variant classification system and improvements to cascade testing recommendations using evidence-codes -
Comprehensive Database of Variants in ACMG Secondary Findings Genes from AI-Based Systematic Evidence Curation and Expert Variant Classification
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