II.
LibrarySkill overview
Reference · livelib-skill:bioinformatics--hpo-phenotype-matcher
hpo-phenotype-matcher overview
Human Phenotype Ontology skill for phenotype-driven gene prioritization
Attributes
displayName
hpo-phenotype-matcher
description
Human Phenotype Ontology skill for phenotype-driven gene prioritization
libraryPath
library/specializations/domains/science/bioinformatics/skills/hpo-phenotype-matcher/SKILL.md
specialization
bioinformatics
contentSummary
# HPO Phenotype Matcher Skill
## Purpose
Provide Human Phenotype Ontology capabilities for phenotype-driven gene prioritization.
## Capabilities
- HPO term matching
- Gene-phenotype association scoring
- Semantic similarity analysis
- Phenotype-variant correlation
- Exomiser integration
Outgoing edges
lib_applies_to_domain1
- domain:bioinformatics·DomainBioinformatics
lib_belongs_to_specialization2
- specialization:biomedical-informatics·SpecializationBiomedical Informatics
- specialization:bioinformatics·SpecializationBioinformatics
lib_implements_workflow1
- workflow:experiment-design·WorkflowExperiment Design
lib_involves_role2
- role:biomedical-engineer·RoleBiomedical Engineer
- role:research-scientist·RoleResearch Scientist
lib_requires_skill_area3
- skill-area:graph-algorithms·SkillAreaGraph Algorithms
- skill-area:data-analysis·SkillAreaData Analysis
- skill-area:statistical-analysis·SkillAreaStatistical Analysis
Incoming edges
None.