Cargando…
Advances in the development of PubCaseFinder, including the new application programming interface and matching algorithm
Over 10,000 rare genetic diseases have been identified, and millions of newborns are affected by severe rare genetic diseases each year. A variety of Human Phenotype Ontology (HPO)‐based clinical decision support systems (CDSS) and patient repositories have been developed to support clinicians in di...
| Autores principales: | , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2022
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9305291/ https://www.ncbi.nlm.nih.gov/pubmed/35143083 http://dx.doi.org/10.1002/humu.24341 |