Deep phenotyping: symptom annotation made simple with SAMS

Precision medicine needs precise phenotypes. The Human Phenotype Ontology (HPO) uses clinical signs instead of diagnoses and has become the standard annotation for patients’ phenotypes when describing single gene disorders. Use of the HPO beyond human genetics is however still limited. With SAMS (Sy...

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Detalles Bibliográficos
Autores principales: Steinhaus, Robin, Proft, Sebastian, Seelow, Evelyn, Schalau, Tobias, Robinson, Peter N, Seelow, Dominik
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Web Server Issue
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9252818/
https://www.ncbi.nlm.nih.gov/pubmed/35524573
http://dx.doi.org/10.1093/nar/gkac329

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9252818/
https://www.ncbi.nlm.nih.gov/pubmed/35524573
http://dx.doi.org/10.1093/nar/gkac329

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