Documentation / Getting Started
Getting Started
Folklore validates and annotates the submitted VCF, applies the relevant germline classification framework, and prepares phenotype, literature, screening, and reporting evidence for clinical review. Family, mitochondrial, cohort, and structural-variant modules extend the core case workflow when their input data is present.
Core Variant Processing
VCF Parsing
Your file is read and loaded into the analysis engine.
Quality Filtering
Low-quality variants are flagged. ClinVar pathogenic variants are never discarded.
Annotation
Variant consequences predicted by Ensembl VEP (coding impact, protein effect, splice region).
Reference Database Enrichment
Population frequencies, clinical significance, functional predictions, gene constraint, phenotype associations, and dosage sensitivity loaded from 16 production classification and reference databases. Across all modules, Folklore integrates 45 reference databases and curated sources.
ACMG Classification
Applicable evidence criteria are evaluated, Bayesian combining rules are applied, and the complete evidence path is recorded.
Export
Results ready for clinical review. Gene-level summaries available immediately.
Processing Time
Runtime depends on variant count, input size, enabled modules, and current server load. Each case records its actual processing duration and stage-level status rather than relying on a fixed turnaround claim.
What the Platform Does Not Do
Folklore does not diagnose. It does not replace the geneticist. It automates the evidence-gathering step of variant interpretation. The geneticist reviews the evidence, applies clinical judgment, considers family history and clinical context, and makes the final clinical decision.
Maximum Sensitivity Approach
No frequency-based or impact-based pre-filtering is applied at any stage. A common variant with a gnomAD allele frequency of 40% still receives a classification -- it will be classified as Benign via BA1, but it is not silently discarded before classification. Nothing is hidden from the reviewing geneticist. The clinician decides clinical relevance based on the complete classification and annotation data.
In This Section
Uploading a VCF File
Supported formats, genome build requirements, and what happens after upload.
Setting HPO Terms
How to provide patient phenotype information and why it matters for prioritization.
Understanding Results
How to read the results interface -- classifications, scores, and annotations explained.
Quality Presets
Three quality filtering levels and the ClinVar rescue mechanism.