Platform Session C (non-accredited)
20 Mar 2025
Venue:
Los Angeles Convention Centre
Meeting Room:
Petree Hall D
Clinical Genetics and Therapeutics
,
Laboratory Genetics and Genomics
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Accredited:
- Not Accredited
Platform presentations are abstract submissions chosen by the abstract review committee to orally present their research. It is a 13-minute presentation followed by a 2-minute Q&A.
O26 - Resolution of large complex VNTRs with HiFi sequencing: applications in LPA Kringle IV-type 2 repeat and D4Z4 repeat
O50 - Multiscore, a Gene Ranker Powered by Artificial Intelligence and Real-World Clinical Data, Shows High Sensitivity in 10,000 Exomes and Genomes.
O51 - VUS subcategorization in a points-based variant classification system and improvements to cascade testing recommendations using evidence-codes
O54 - Comprehensive Database of Variants in ACMG Secondary Findings Genes from AI-Based Systematic Evidence Curation and Expert Variant Classification
O26 - Resolution of large complex VNTRs with HiFi sequencing: applications in LPA Kringle IV-type 2 repeat and D4Z4 repeat
O50 - Multiscore, a Gene Ranker Powered by Artificial Intelligence and Real-World Clinical Data, Shows High Sensitivity in 10,000 Exomes and Genomes.
O51 - VUS subcategorization in a points-based variant classification system and improvements to cascade testing recommendations using evidence-codes
O54 - Comprehensive Database of Variants in ACMG Secondary Findings Genes from AI-Based Systematic Evidence Curation and Expert Variant Classification
Agenda
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12:00 PM – 1:00 PM -
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Resolution of large complex VNTRs with HiFi sequencing: applications in LPA Kringle IV-type 2 repeat and D4Z4 repeat12:00 PM – 12:15 PM -
Multiscore, a Gene Ranker Powered by Artificial Intelligence and Real-World Clinical Data, Shows High Sensitivity in 10,000 Exomes and Genomes.
12:15 PM – 12:30 PM -
VUS subcategorization in a points-based variant classification system and improvements to cascade testing recommendations using evidence-codes12:30 PM – 12:45 PM -
Comprehensive Database of Variants in ACMG Secondary Findings Genes from AI-Based Systematic Evidence Curation and Expert Variant Classification12:45 PM – 1:00 PM -
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