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Platform Presentations - Clinical Genetics and Therapeutics Session B

15 Mar 2024
Venue: Metro Toronto Convention Center
Meeting Room: 701
Clinical Genetics and Therapeutics
  • Accredited:
    • Accredited
  • Primary Categories:
    • Clinical Genetics
  • Secondary Categories:
    • Clinical Genetics
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.

O23 - Diagnostic Success of Genomic Analyses in Adults with Undiagnosed Diseases: A Report from the Undiagnosed Diseases Network (UDN)
 
O11 - An atlas of 1.2M structural variants across global populations in the Genome Aggregation Database (gnomAD)
 
O25 - Bridging the Neurodevelopmental Diagnostic Gap: A Comprehensive Multi-omics Approach for Transcriptomics and Proteomics Outliers with Exome Reanalysis

O10 - Exome-based integrated CNV/SNV Analysis as a Superior First Line Test: Do you know what you're missing?

O38 - Universal Exome Sequencing in Critically-Ill Young Adults: A Diagnostic Yield of 37% and Race-Based Disparities in Access to Genetic Testing
 
O19 Antisense oligonucleotide targeting a linked-SNP provides allele-specific and effective knockdown to a dominant negative SPTAN1 pathogenic variant
 

Agenda

  • Jodi D. Hoffman, MD, FACMG
  • Stephanie A. Bivona, MS
    Diagnostic Success of Genomic Analyses in Adults with Undiagnosed Diseases: A Report from the Undiagnosed Diseases Network (UDN)

     
    1:30 PM – 1:45 PM
  • Harrison Brand, PhD
    An atlas of 1.2M structural variants across global populations in the Genome Aggregation Database (gnomAD)
    1:45 PM – 2:00 PM
  • Carol Saunders, PhD, FACMG
    Exome-based integrated CNV/SNV Analysis as a Superior First Line Test: Do you know what you're missing?
    2:15 PM – 2:30 PM
  • Brian Hon-Yin Chung, MS, MD
    Bridging the Neurodevelopmental Diagnostic Gap: A Comprehensive Multi-omics Approach for Transcriptomics and Proteomics Outliers with Exome Reanalysis
    2:00 PM – 2:15 PM
  • Theodore G. Drivas, MD, PhD
    Universal Exome Sequencing in Critically-Ill Young Adults: A Diagnostic Yield of 37% and Race-Based Disparities in Access to Genetic Testing
    2:30 PM – 2:45 PM
  • Christiana Wang, BS
    Antisense oligonucleotide targeting a linked-SNP provides allele-specific and effective knockdown to a dominant negative SPTAN1 pathogenic variant

     
    2:45 PM – 3:00 PM

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