OntoClick_Pitch_HealthHack_2017.pdf

Transcript

1. OntoClick Turn your clinical description into a proper ontology term with just one click! Andreas Zankl
2. and other fancy computational things… Machine Learning
3. Femoral bowing Bowed femurs Messy Data
4. The Human Phenotype Ontology (HPO) HP:0002980 Bowed Femurs HP:0002980 Femoral Bowing
5. Things computers can do with HPO Find the right diagnosis (Phenomizer) Find the right mutation (Genomizer) Find similar patients (Matchmaker)
6. Looking up HPO terms takes time Go to HPO website Type in your search term Copy the correct HPO term Paste it where you need it
7. Doctors are busy
8. OntoClick Turn your clinical description into a proper ontology term with just one click!
9. Google Translate for Ontologies
10. Google Translate
11. The patient had bowed femurs, a large head and short toes. bowed femurs HP:0002980 “Femoral Bowing” Bowing (abnormal curvature) of the femur. HPO ID and preferred label: Recognised text: Textual definition: Superclasses: Abnormality of femur morphology; Bowing of the legs Bowed femur; Bowed femura; Bowed femurs; Bowed thighbone Synonyms Subclasses: Femoral bowing present at birth, straightening with time; Lateral femoral bowing; Distal femoral bowing
12. HPO Website http:/ /compbio.charite.de/hpoweb/showterm?id=HP:0000118
13. “bowed femurs” “Femoral Bowing (HP:0002980)” Annotator API
14. Bioportal REST API http:/ /data.bioontology.org/documentation
15. Lots of other useful Ontologies available through Bioportal API Gene Ontology Disease Ontology Mammalian Phenotype Ontology
16. Let’s make Ontologies Great Again!