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Platform Presentations - Laboratory Genetics and Genomics / Social, Ethical and Legal Issues (SELI), Public Health and Policy

15 Mar 2024
Venue: MTCC
Meeting Room: 718
SELI, Public Health & Policy , Laboratory Genetics & Genomics
  • Accredited:
    • Accredited
  • Primary Categories:
    • Laboratory Genetics
  • Secondary Categories:
    • Laboratory 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.

O36 - Long-Read Genome Sequencing in Unsolved Rare Genetic Diseases: Preliminary Experiences from the Care4Rare Canada Consortium
 
O24 - Unveiling the power of HiFi genome sequencing: one test to rule them all?
 
O20  - Beyond the Genome: RNA Sequencing Resolves Unique Diagnostic Challenges
 
O18  - Addressing Misattributed Parentage Discovered Through Trio-Based Genetic Testing: Best Practice Guideline Developed by Multidisciplinary Team at a Pediatric Hospital
 
O43 - Analysis of >800,000 diverse sequenced humans in gnomAD improves clinical interpretation and provides insight into gene function
 
O07 - Haploinsufficiency of EIF3A and EIF3B cause a clinically variable phenotype characterized by neurodevelopmental abnormalities and congenital heart defects 
 

Agenda

  • Ross A. Rowsey, PhD, FACMG
  • Katarzyna Thompson, PhD
  • Giulia F. Del Gobbo, PhD
    Long-Read Genome Sequencing in Unsolved Rare Genetic Diseases: Preliminary Experiences from the Care4Rare Canada Consortium
    1:30 PM – 1:45 PM
  • Emily G. Farrow, PhD, CGC, FACMG
    Unveiling the power of HiFi genome sequencing: one test to rule them all?
    1:45 PM – 2:00 PM
  • Robert G. Lewis, PhD
    Beyond the Genome: RNA Sequencing Resolves Unique Diagnostic Challenges



     
    2:00 PM – 2:15 PM
  • Andrea Paras, MS, CGC
    Addressing Misattributed Parentage Discovered Through Trio-Based Genetic Testing: Best Practice Guideline Developed by Multidisciplinary Team at a Pediatric Hospital

     
    2:15 PM – 2:30 PM
  • Heidi L. Rehm, PhD, FACMG
    Analysis of >800,000 diverse sequenced humans in gnomAD improves clinical interpretation and provides insight into gene function
    2:30 PM – 2:45 PM
  • Cherith B. Somerville, MHSc
    Haploinsufficiency of EIF3A and EIF3B cause a clinically variable phenotype characterized by neurodevelopmental abnormalities and congenital heart defects 
    2:45 PM – 3:00 PM

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