false
zh-CN,zh-TW,en,fr,de,ja,ko,pt,es,th,vi
Catalog
View Only- Diagnostic Utility of RNA-Seq in Neurod ...
Slides
Slides
Back to course
Pdf Summary
The ACMG Genomics Case Conference was hosted by Baylor College of Medicine and the Undiagnosed Diseases Network (UDN). The conference aimed to provide educational resources for healthcare professionals involved in clinical genetics and genomics. The presenters included faculty members from Baylor College of Medicine who discussed the diagnostic utility of RNA-Seq in neurodevelopmental disorders.<br /><br />The conference emphasized that the information presented should be used as an educational resource and does not guarantee improved care. The presenters disclosed any financial relationships they have with relevant companies or organizations.<br /><br />The learning objectives of the conference included understanding the clinical utility of exome/genome sequencing tests, identifying clinical indications for these tests, and understanding the determinants used to assess the probability of a variant's pathogenicity.<br /><br />The presenters discussed the workflow and applications of RNA-Seq in the evaluation of neurodevelopmental disorders. They explained how RNA-Seq can be used to identify consequences of intronic variants, evaluate X-inactivation, and analyze pathways and downstream effects.<br /><br />The conference also highlighted the importance of choosing the optimal tissue source for RNA-Seq analysis. Fibroblasts were found to have less variability than whole blood and were better for detecting clinically relevant differences in gene expression.<br /><br />Three case presentations were discussed, showcasing the use of RNA-Seq in the diagnosis of neurodevelopmental disorders. The cases included individuals with intellectual disability, dysmorphic features, and seizures. Through RNA-Seq analysis, pathogenic variants in genes associated with specific disorders were identified.<br /><br />The conference concluded by discussing the limitations of RNA-Seq, the need for large control data sets, and the complementarity of RNA-Seq with other genetic testing methods.<br /><br />Overall, the ACMG Genomics Case Conference provided valuable insights into the diagnostic utility of RNA-Seq in neurodevelopmental disorders and emphasized the importance of continued research and collaboration in the field of genomics.
Keywords
ACMG Genomics Case Conference
Baylor College of Medicine
Undiagnosed Diseases Network
clinical genetics
genomics
RNA-Seq
neurodevelopmental disorders
exome/genome sequencing tests
variant's pathogenicity
tissue source for RNA-Seq analysis
© 2024 American College of Medical Genetics and Genomics. All rights reserved.
×