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Conference Program

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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
  • 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

Agenda

  • Nathan D. Kopp, PhD, FACMG
    12:00 PM – 1:00 PM
  • Qiliang (Andy) Ding, PhD
  • Xiao Chen, PhD
    Resolution of large complex VNTRs with HiFi sequencing: applications in LPA Kringle IV-type 2 repeat and D4Z4 repeat
    12:00 PM – 12:15 PM
  • Vincent D.. Ustach, PhD

    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
  • Yuya Kobayashi, PhD
    VUS subcategorization in a points-based variant classification system and improvements to cascade testing recommendations using evidence-codes
    12:30 PM – 12:45 PM
  • Mark J. Kiel, MD PhD
    Comprehensive Database of Variants in ACMG Secondary Findings Genes from AI-Based Systematic Evidence Curation and Expert Variant Classification
    12:45 PM – 1:00 PM
  • Nathan D. Kopp, PhD, FACMG

Sponsors