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