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Long-Read Sequencing: Diagnosing the Undiagnosed Through Comprehensive Clinical Genetic Testing

14 Mar 2024
Venue: Metro Toronto Convention Center
Meeting Room: 714/16
Clinical Genetics and Therapeutics
  • Accredited:
    • Accredited
  • Primary Categories:
    • Clinical- Pediatric
  • Secondary Categories:
    • Clinical-Adult & Pediatric
  • Level of Learner:
    • Intermediate
A comprehensive clinical genetic evaluation, including short-read exome or genome sequencing, leads to a diagnosis in less than half of individuals suspected to have a Mendelian genetic disorder. This evaluation is typically systematic and may take years to complete, which creates barriers to completing a comprehensive clinical evaluation and limits the ability of individuals to participate in targeted or N-of-1 therapies. Therefore, new technical and analytical approaches are needed to both increase the diagnostic rate and shorten the time to diagnosis. Long-read DNA and RNA sequencing (LRS) is unique in that as a single data source it has the potential to replace nearly all existing clinical genetic testing. This would allow a diagnostic evaluation to occur in a stepwise fashion without the need for repeated sample collections and data generation. This session will provide examples of how LRS was used to evaluate challenging cases from the Undiagnosed Diseases Network (UDN), providing examples of how LRS was used to identify missing disease-causing variants, clarify complex structural variants, evaluate epigenetic patterns genome-wide, and identify splicing differences in complete isoforms. This session will prepare both providers and researchers for the increasing use of LRS in both the clinical and research space over the next few years, and highlight how LRS has the potential to enable comprehensive genetic evaluations.

Learning Objectives

  1. Explain the diagnostic success of short-read RNA-Seq for detection of rare transcripts
  2. Recognize the diagnostic success of long-read RNA-Seq relative to short-read technologies
  3. Interpret the diagnostic success of long-read genomic (DNA) sequencing when applied to undiagnosed UDN participants
  4. Identify the diagnostic success of long-read genomic sequencing with integration of epigenetic information

Agenda

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