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Article

Deep phenotyping: symptom annotation made simple with SAMS.

Nucleic acids research - 5 Jul 2022

Steinhaus Robin, Proft Sebastian, Seelow Evelyn, Schalau Tobias, Robinson Peter N, Seelow Dominik

Abstract excerpt

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 (Symptom Annotation Made Simple), we want to bring sign-based phenotyping to routine clinical care, to hospital...

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Identifiers

PMID: 35524573
DOI: 10.1093/nar/gkac329
PMCID: PMC9252818

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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