Utilizing customized sequencing solutions to detect and confirm variants in difficult-to-sequence genes
How does in-depth understanding of difficult-to-sequence regions enable improved patient outcomes? Leaps in DNA sequencing technologies and in our ability to understand and interpret genomic sequences have advanced diagnostics of rare hereditary disorders. However, there are still many regions in the genome that harbor clinically important variants but are not covered with standard next generation sequencing (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.
This educational webinar provides participants insights into the most recent advancements in the area of difficult-to-sequence regions and, especially, improved diagnostics of X-linked retinitis pigmentosa and spinal muscular atrophy. In this webinar we will share our approach of customized bioinformatic and sequencing solutions.
- Overview of our NGS platform
- Description of difficult-to-sequence genetic regions
- Our approach to provide customized solutions
- Case examples including RPGR (ORF15) and SMN1/SMN2, associated with X-linked retinitis pigmentosa and spinal muscular atrophy
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Webinar video and content: Copyright © 2020 Blueprint Genetics. All trademarks are property of their respective owners.
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.