A holistic approach to maximise diagnostic output in trio exome sequencing
IntroductionRare genetic diseases are a major cause for severe illness in children. Whole exome sequencing (WES) is a powerful tool for identifying genetic causes of rare diseases. For a better and faster assessment of the vast number of variants that are identified in the index patient in WES, pare...
Guardat en:
| Autors principals: | , , , , |
|---|---|
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Frontiers Media S.A.
2023-05-01
|
| Col·lecció: | Frontiers in Pediatrics |
| Matèries: | |
| Accés en línia: | https://www.frontiersin.org/articles/10.3389/fped.2023.1183891/full |
| Etiquetes: |
Sense etiquetes, Sigues el primer a etiquetar aquest registre!
|