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
An NLP framework for clinical phenotyping. Docker | Python | Solr | OMOP. http://claritynlp.readthedocs.io/en/latest/
Repository for the GA4GH phenopacket schema
API for linked biological knowledge
PATO - the Phenotype And Trait Ontology
Phenotype comparison tools using semantic similarity.
Learn interpretable computational phenotyping models from k-merized genomic data
A phenotype-based tool for variant prioritization in WES and WGS data
source files for OBA (Ontology of Biological Attributes)
Python library for extracting HPO encoded phenotypes from text
R package for epigraphdb
phenol: Phenotype ontology library
Internationalisation of the HPO content
Fission Yeast Phenotype Ontology
The phenogrid widget
Open Traits Network Registry and Website
Runs CQL phenotype definitions against an OMOP repository
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.
A Silver Standard Corpus of Human Phenotype-Gene Relations
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