dc.contributor.author
Steinhaus, Robin
dc.contributor.author
Proft, Sebastian
dc.contributor.author
Seelow, Evelyn
dc.contributor.author
Schalau, Tobias
dc.contributor.author
Robinson, Peter N
dc.contributor.author
Seelow, Dominik
dc.date.accessioned
2023-03-24T12:30:04Z
dc.date.available
2023-03-24T12:30:04Z
dc.identifier.uri
https://refubium.fu-berlin.de/handle/fub188/38553
dc.identifier.uri
http://dx.doi.org/10.17169/refubium-38269
dc.description.abstract
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 patients as well as to outpatients. Our web-based application provides access to three widely used annotation systems: HPO, OMIM, Orphanet. Whilst data can be stored in our database, phenotypes can also be imported and exported as Global Alliance for Genomics and Health (GA4GH) Phenopackets without using the database. The web interface can easily be integrated into local databases, e.g. clinical information systems. SAMS offers users to share their data with others, empowering patients to record their own signs and symptoms (or those of their children) and thus provide their doctors with additional information. We think that our approach will lead to better characterised patients which is not only helpful for finding disease mutations but also to better understand the pathophysiology of diseases and to recruit patients for studies and clinical trials.
SAMS is freely available at https://www.genecascade.org/SAMS/
en
dc.rights.uri
https://creativecommons.org/licenses/by/4.0/
dc.subject
Symptom Annotation Made Simple (SAMS)
en
dc.subject
Human Phenotype Ontology (HPO)
en
dc.subject
Deep phenotyping
en
dc.subject.ddc
600 Technik, Medizin, angewandte Wissenschaften::610 Medizin und Gesundheit::610 Medizin und Gesundheit
dc.title
Deep phenotyping: symptom annotation made simple with SAMS
dc.type
Wissenschaftlicher Artikel
dcterms.bibliographicCitation.doi
10.1093/nar/gkac329
dcterms.bibliographicCitation.journaltitle
Nucleic Acids Research
dcterms.bibliographicCitation.number
W1
dcterms.bibliographicCitation.originalpublishername
Oxford University Press
dcterms.bibliographicCitation.pagestart
W677
dcterms.bibliographicCitation.pageend
W681
dcterms.bibliographicCitation.volume
50
refubium.affiliation
Charité - Universitätsmedizin Berlin
refubium.resourceType.isindependentpub
no
dcterms.accessRights.openaire
open access
dcterms.bibliographicCitation.pmid
35524573
dcterms.isPartOf.issn
0305-1048
dcterms.isPartOf.eissn
1362-4962