P109: Impact of structural biology assessment on variant interpretation and patient outcomes over ten years in a clinical diagnostic laboratory*
Abstract
The clinical interpretation of genetic variants, particularly variants of uncertain significance (VUS), remains a significant challenge for diagnostic laboratories. While structural biology offers a powerful lens for assessing a variant's impact on protein function, its routine quantitative impact on clinical classifications is not well characterized. This raises the question of how, and to what extent, structural assessment influences variant interpretation and patient outcomes in a large-scale diagnostic setting.
Fields of Study & Subjects
Genomics and Rare Diseases
Clinical Laboratory Practices and Quality Control
Connective tissue disorders research
Publication details
- Journal / source
- Genetics in Medicine Open
- Volume
- 4
- Pages
- 103603–103603
- Publication date
- 1 January 2026
- Language
- EN