Event FinderUse Of RNA Sequencing To Improve Diagnostic Sensitivity: What You Need To Know
- Starts
- Ends
- Format
- Online
- Location
- VIRTUAL
About This Event
Next-generation sequencing has evolved into a powerful tool helping thousands get molecular diagnosis of their conditions. In some cases, proving that a specific variant is the cause of a condition can be challenging or impossible based on information available in the literature. This is especially true for variants near intron-exon junctions. Similarly the splicing consequences of large intragenic deletions are also problematic to predict. Imprinting disorders where the parental origin of the variant is of importance requires additional data to assess appropriately.