05/30/2023
Publication alert! 🔈
We're proud to support Dr. Gorukmez from the Department of Medical Genetics and Neurology in Turkey, who published findings investigating genetic variants of NOTCH3 in individuals with CADASIL, which is a rare hereditary form of cerebral small vessel disease. The researchers utilized Paragon Genomics's CleanPlex technology to generate a custom targeted sequencing panel for analyzing patient samples isolated from blood and accurately identifying pathogenic variants in the NOTCH3 gene. By leveraging the Sophia DDM platform, the team successfully detected 30 different disease-causing variants, including 17 novel variants, in the patient group. These findings contribute valuable insights into the diagnosis and management of CADASIL, highlighting the significance of understanding the genetic basis of CADASIL and its potential impact on personalized medicine approaches.
Read the full publication here:
Scientific Publications using CleanPlex NGS Amplicon Sequencing Technologies and Products