HPO Phenotype Matching for Gene and Variant Prioritization
Folklore compares the patient's selected Human Phenotype Ontology (HPO) terms with the phenotype profile associated with each gene that carries a candidate variant. Ontology relationships allow related concepts to match even when their labels are not identical.
The result is a phenotype match score from 0 to 100 and a phenotype-aware clinical tier. Variant Analysis owns the ACMG classification; Phenotype Matching uses that existing class during prioritization but does not rewrite it. The PP3/BP4 computational evidence path is documented separately under BayesDel_noAF score thresholds. Neither score establishes a diagnosis.
Analysis Flow
Prepare the phenotype profile
Select HPO terms directly or review terms proposed from clinical free text. Only confirmed, present findings should be submitted for matching.
Identify eligible variants
Folklore evaluates non-reference variants that have a gene-associated HPO profile from Variant Analysis.
Compare HPO profiles
Each valid patient term is compared with the HPO terms associated with the variant gene, including related terms in the ontology.
Prioritize variants
Phenotype similarity is considered together with ACMG class, functional impact, population frequency, ClinVar evidence, and inheritance context.
Review grouped results
Genes are ranked by their strongest result. Expand a gene to inspect its variants and the individual HPO term matches.
HPO Terms Are Required
If no patient HPO terms are provided, Folklore cannot run phenotype matching and returns no phenotype-ranked results. Add or confirm the clinical findings before starting this stage.
What the Results Show
Gene rank
Genes ordered by the best clinical priority result among their variants.
Clinical tier
Tier 1, Tier 2, IF, Tier 3, or Tier 4 for phenotype-aware triage.
Clinical priority score
A tier-coded score used to order results within the same clinical workflow.
HPO term matches
Patient terms and their strongest semantic match in the gene profile.
In This Section
HPO Overview
How standardized phenotype terms enter the analysis.
Semantic Similarity
How patient findings are compared with gene-associated phenotype profiles.
Clinical Tiers
The five phenotype-aware prioritization groups and their safeguards.
Interpreting Scores
How to read phenotype and clinical priority scores.
HPO Term Selection Guide
Practical guidance for preparing a useful phenotype profile.