Synopsis of recent research by authors named "Amber den Ouden"
- Amber den Ouden's research focuses on advancing genetic diagnostic methods for rare diseases, particularly using innovative sequencing technologies such as HiFi long-read genome sequencing and genome sequencing as a first-tier diagnostic tool.
- Her recent studies demonstrate the effectiveness of long-read sequencing in identifying complex genetic variants, including structural variations that often go undetected with conventional short-read techniques, thus providing better molecular diagnoses for previously undiagnosed patients.
- Den Ouden also explores the implications of genetic testing, including the challenges related to specific gene clusters and mobile element insertions, highlighting the need for improved diagnostic workflows in genetic laboratories to enhance efficiency and accuracy in rare disease identification.
