In Focus: Complex Genetic Regions in Clinical Diagnostics
Jan 14, 2021
Webinar information
Date: February 04, 2021
Time: 9:00 AM PST / 18:00 CET
Duration: 1 hour
Speaker: Johanna Sistonen

Date: February 4, 2021
Time: 9:00 AM PST / 18:00 CET

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.

In this educational webinar, Clinical Development Manager Dr Johanna Sistonen will review the latest advancements in analyzing difficult-to-sequence regions. We will provide insight into our own troubleshooting strategies for challenging cases and our approach to customized sequencing and bioinformatic solutions.

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



Johanna Sistonen

Johanna Sistonen, PhD is clinical development manager for Blueprint Genetics. Johanna received her PhD from the University of Helsinki in personalized medicine and did her postdoctoral training at the University of British Columbia in Vancouver. She has worked as a research group leader in the University Hospital of Bern, Switzerland. Johanna joined Blueprint Genetics R&D in 2015 and currently leads the Clinical R&D team.

More details here

Last modified: February 11, 2021