matentzn
commented
1 year ago Key results 2022/2023
- Integrated OBA into uPheno to group phenotypes irrespective of their effect
- OBA allows the integration of phenotype ontologies due to computational phenotype definitions. Illustration: Query that groups all morphological abnormalities related to the cardiovascular system: https://api.triplydb.com/s/ZHtSpyJ25
- Finished and submitted the OBA paper https://doi.org/10.1101/2023.01.26.525742 (Mammalian Genome special edition). The writing process resulted in a lot of cleaning of OBA and significant extensions in terms of computational phenotypes.
- Ongoing improvements of reference ontologies
Summary
We will apply these templates to rebuild the species-neutral core uPheno, using a combination of automated mechanisms and manual selection to choose appropriate terms to group phenotypes from individual ontologies and using standard reasoning software to automate classification (Figure 10D). Core uPheno classes will reference species-neutral ontologies that work as biologically meaningful bridges between species: Uberon, Gene Ontology, Cell ontology etc. This will provide a high quality substrate for algorithms that measure phenotypic similarity (Figure 10C) enabling statistical matching of phenotype profiles (Figure 7).
Key people
Action items