A Tool to Annotate and Prioritize Exome Variants
An NLP framework for clinical phenotyping. Docker | Python | Solr | OMOP...
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 geno...
A phenotype-based tool for variant prioritization in WES and WGS data