Synopsis of recent research by authors named "Sarah L Stenton"
- Sarah L Stenton's research primarily focuses on advancing methods for genetic variant classification and diagnosis of rare diseases, with a notable emphasis on calibration of computational tools for clinical applications and the exploration of non-coding RNA's role in neurodevelopmental disorders.
- Recent studies have shown that long-read sequencing (LRS) can significantly enhance diagnostic yield in rare diseases by capturing variants that short-read sequencing cannot, suggesting a new direction for genetic testing strategies.
- Stenton's work also highlights the challenges of incomplete penetrance in variant interpretation, advocating for improved variant prioritization methods, and revealing the importance of non-coding variants in syndromic disorders, thus expanding the scope of genetic research beyond protein-coding genes.
