VCF from WGS or WES enters with its sample and quality context.
45 curated databases attach frequency, conservation, and predictions.
Deterministic ACMG/AMP, MMDWG and Riggs rules assign a class.
Phenotype, screening and cohort signals order the gene list.
A geneticist inspects fired criteria and evidence, then signs.
A tiered, traceable report carries every result to its source.
Locally indexed reference data, parallel processing and framework-specific classifiers keep annotation, classification and patient-specific prioritisation inside one pipeline.
Reference data is available directly inside the analytical pipeline.
Independent analytical stages run concurrently.
Classification and patient-specific prioritisation arrive in one review workspace.
The assistant is available throughout Folklore and works from the context already assembled in the case: classifications, phenotype, inheritance, quality data and linked literature.
The most significant finding is a Pathogenic variant in the AP5Z1 gene.
Biallelic pathogenic variants in AP5Z1 are associated with hereditary spastic paraplegia type 48 (SPG48), an autosomal-recessive, often complicated form of HSP characterised by progressive lower-limb spasticity and weakness.
Patient data remains in the EU. Access is role-based, data is encrypted in transit and at rest, and every classification records the evidence and classifier version used.
Helsinki, Finland. Patient data stays in the EU.
Each result records its classifier version and supporting evidence.
Classification criteria, thresholds and decision rules are documented openly.
Every final report remains under specialist review.
Bring panels, exomes and whole genomes into one fast, integrated and case-aware workflow, from VCF to specialist review.
