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