Date: February 04, 2021
Time: 9:00 AM PST / 18:00
CET Duration: 1 hour
Speaker: Johanna Sistonen
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.
- 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