Date: February 04, 2021
Time: 9:00 AM PST / 18:00
CET Duration: 1 hour
Speaker: Johanna Sistonen
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What steps should laboratories take to try and resolve clinically relevant genes affected by segmental duplication and pseudogenes? Why is it important? While our ability to accurately detect disease-causing variants in the human genome is continuously improving, there are certain genomic regions that remain a challenge to validate, analyze, and interpret.
A number of clinically important variants are located in regions that are not covered with standard next-generation sequencing (NGS) strategies or Sanger sequencing. By developing custom solutions, we can resolve difficult-to-sequence regions and structural variants that have highly homologous genomic regions or consist of longer stretches of repetitive sequences.
Webinar objectives:
- Provide an overview of difficult-to-sequence genetic regions
- Explain why it is important to be aware of possible limitations in tackling pseudogenes when ordering genetic testing
- Review the clinical importance of resolving these regions
- Demonstrate the need for customized methods to detect and confirm disease-causing variants in challenging regions
- Review case examples including PKD1 associated with polycystic kidney disease, RPGR (ORF15) associated with X-linked retinitis pigmentosa, and novel disease-causing transposable element insertions
