name: biomedical-entity-normalization description: "Normalize genes, proteins, variants, diseases, phenotypes, compounds, reactions, tissues, cell types, organisms, studies, and accessions before multi-source biomedical research. Use whenever aliases, assemblies, releases, or identifier namespaces could change retrieval." license: MIT metadata: version: "1.0.1"

Biomedical Entity Normalization

Decision contract

Create a versioned mapping table with raw input, entity type, canonical label, stable IDs, species, assembly or release, selected record, alternatives, confidence, and rationale; preserve the original string and never overwrite ambiguity.

Reference usage

Read entity-identity-and-crosswalks.md before selecting identifiers, transforming variants, joining namespaces, resolving ontology concepts or chemical forms, or adjudicating one-to-many mappings. It specifies identity classes, source dependencies, uncertainty, controls, sensitivity, and scope limits.

Workflow

1. Preserve each raw string and context, then classify entity type, species, source namespace, and intended use; record unresolved type or species ambiguity.
2. Pin the relevant authority and release/assembly for each entity class; record access date, query, source record identifier, and version before interpreting matches.
3. Generate exact and alias candidates from fit-for-purpose registries; record candidate identifiers, labels, species, status, and why candidates were included or excluded.
4. Apply domain identity criteria: resolve genes and proteins across MyGene, NCBI Gene, Ensembl, and UniProt while separating paralogs, pseudogenes, transcripts, and isoforms; normalize variants by assembly, chromosome, position, REF/ALT, left alignment, multiallelic decomposition, transcript, and liftover log.
5. Resolve disease, phenotype, tissue, and cell concepts against versioned ontologies; resolve compounds and reactions with stereochemistry, tautomer, charge, salt, isotope, role, and cross-references; preserve study repository, accession, version, organism, assay, and terms.
6. Classify each mapping as exact, equivalent under a stated transformation, broader/narrower related, ambiguous, deprecated/merged, or unresolved; record rationale, alternatives, confidence, dependencies, and applicable domain.
7. Run positive and negative identity controls plus round-trip, cardinality, species, assembly, and status checks; record expected invariants and every failed check.
8. Vary alias sets, source releases, assembly/transcript choices, ontology versions, and chemical representation; record whether the selected identity or downstream retrieval changes and downgrade fragile mappings.
9. Verify that no material ambiguity is silently collapsed; retain unresolved mappings or stop when species, assembly, transcript, isoform, chemical form, ancestry, ontology concept, or accession changes interpretation.
10. Emit entity-mapping-v1, preserve mapping alternatives, releases, and conversion logs with $science-provenance, and require $science-review whenever mapping controls retrieval, aggregation, or a reported claim.

Outputs

Emit one entity-mapping-v1 record with required fields: schema_version, mapping_set_id, source_releases, mappings, rejected near matches (rejected_near_matches), unresolved_entities, crosswalk_dependencies, one-to-many and many-to-one warnings (crosswalk_cardinality_warnings), control_results, sensitivity, limitations, and provenance. Each mapping retains raw_input, entity_type, canonical_label, stable_ids, species, assembly_or_release, selected_record, alternatives, claim_class, confidence, and rationale.

Boundaries

Stop when species, assembly, transcript, isoform, chemical form, ancestry, ontology concept, or accession ambiguity could change a material conclusion; do not use label similarity alone as identity. Record mappings, alternatives, source releases, and conversion logs with $science-provenance; require $science-review whenever a mapping controls retrieval, aggregation, or a reported claim. A registry match establishes an identifier relationship under its release, not biological function or clinical significance.