Emerging Opportunities in Resolving Difficult-to-Sequence Regions: a PKD1 Case Example
Jun 19, 2019
Webinar information
Date: June 15, 2019
Time: 13:00 PM CEST
Duration: 35 min
Speaker: Johanna Sistonen

Date: June 15, 2019
Time: 13:00 PM CEST

Enhancing diagnostic performance in difficult-to-sequence regions is improving patient outcomes.

At ESHG 2019 in Gothenburg, Head of Clinical R&D Johanna Sistonen, PhD, gave a talk on difficult-to-sequence regions in the genome with clinically important variants that are not covered with standard NGS strategies or Sanger sequencing.

These regions include genes that have pseudogenes or other highly homologous genomic regions or consist of longer stretches of repetitive sequences. During the talk, Sistonen presented Blueprint Genetics’ approach to resolving such regions highlighting PKD1 and the genetic diagnostics of polycystic kidney disease as a case example.

How to tackle difficult-to-sequence genetic regions?

Optimizing NGS laboratory method:

  • Library preparation
  • Target capture
  • Sequencing parameters

Optimizing NGS data analysis algorithms:

  • Alignment
  • Variant calling

“Developing additional bioinformatic and laboratory methods is needed to supplement the standard NGS workflow,” said Sistonen.

> Genetic testing in Autosomal Dominant Polycystic Kidney Disease (ADPKD)


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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.

Last modified: October 30, 2020