A Tool to Annotate and Prioritize Exome Variants
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Updated
May 3, 2024 - Java
A Tool to Annotate and Prioritize Exome Variants
Repository for the GA4GH phenopacket schema
A phenotype-based tool for variant prioritization in WES and WGS data
phenol: Phenotype ontology library
Runs CQL phenotype definitions against an OMOP repository
Reference java implementation for phenopackets
Bayesian ontology querying from Bauer et al.
Germinate is an open source plant database infrastructure and application programming platform on which complex data from genetic resource collections can be stored, queried and visualized using common, reusable programming components.
Code to generate ontology annotated objects (e.g. HPO annotated patients)
🐟 Zebrafish Phenotype Ontology: Build Tools (OBSOLETE)
How do proliferation-migration tradeoffs affect phenotypic evolution in a tumors? In this off-lattice agent-based simulation the user can vary trade-off boundaries, death rate, and whether death occurs in response to demographic or environmental stochasticity. See the README file for details.
Broker: simulates a server that receives the digital phenotypes built by the OpenDPMH framework.
The QC software for the OBO version of HPO
The QC software for the OWL version of HPO (only text-checks, not so much logic included)
Germinate Gatekeeper
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