Characterising structural variants in patients with craniosynostosis using short-read and long-range technologies
<p><strong>Background:</strong> Structural variants (SVs) are large genomic alterations that can span from 50, to millions of base pairs, with potential clinical implications depending on their location and consequence. Characterisation and interpretation of SVs through conventiona...
| Autor principal: | |
|---|---|
| Altres autors: | |
| Format: | Thesis |
| Idioma: | English |
| Publicat: |
2024
|
| Matèries: |