Literature Evidence
Folklore searches a local, pre-processed PubMed dataset for publications relevant to a case. The literature stage is integrated with the clinical pipeline and is intended to reduce the candidate set that a geneticist must review, not to replace a systematic literature search.
Results are organized by gene and retain the publication metadata and matching signals that produced their rank. If Phenotype Matching data is available, the user interface also combines clinical priority with literature relevance when ordering gene groups.
Production Workflow
Build the case query
The pipeline uses reportable genes and variants from Variant Analysis. Patient HPO terms enrich the query when they are available.
Find candidate publications
Folklore searches locally indexed gene mentions and the locally stored publication title and abstract, then deduplicates the candidate set.
Assemble review signals
Candidates are associated with available gene mentions, variant notation, MeSH terms, publication metadata, and indicators of possible functional work.
Rank for review
A multi-signal relevance model orders publications by phenotype overlap, publication context, gene focus, functional indicators, variant match, and recency.
Present the evidence trail
The interface shows the relevance score, its component signals, triage label, abstract, matched entities, and source links.
Local Clinical Search
Case searches run against the locally hosted literature database on EU infrastructure. Patient genes, variants, and phenotype terms are not sent to PubMed or another external search API during clinical retrieval. Database ingestion is a separate maintenance process.
Important Boundary
Relevance scores and evidence labels are search-and-triage aids. They do not establish an ACMG/AMP criterion, validate a functional assay, prove that a reported variant is identical in transcript context, or determine whether a publication is applicable to the patient. The source publication must be reviewed before evidence is used clinically.
In This Section
Literature Evidence
Case inputs, publication discovery, reported fields, and the review workflow.
Relevance Ranking
The clinical signals used to order publications and how to interpret the score.
Evidence Labels
What the Strong, Moderate, Supporting, and Weak triage labels mean.
PubMed Coverage
Current database scope, ingestion filters, freshness, and known gaps.