Computational methods
Deterministic classification, evidence handling, phenotype-driven prioritisation and methodologies for nuclear, mitochondrial and structural variation.
Helena Bioinformatics develops computational methods, genomic data infrastructure and clinical software. We work with laboratories, geneticists and research institutions to move genomic interpretation from isolated workflows into systems that can be tested, traced and used at scale.
Methods and infrastructure
Genomic software
Research and development
Helena brings together genomic methodology, high-performance computing and clinical software engineering. Each layer is developed as part of the same system, from the treatment of evidence and reference data to the way results reach laboratory review.
Deterministic classification, evidence handling, phenotype-driven prioritisation and methodologies for nuclear, mitochondrial and structural variation.
Locally indexed reference data, parallel processing, controlled environments and versioned analytical dependencies.
Software that turns these methods into reviewable workflows for laboratories, geneticists and clinical teams.
Our work addresses how genomic evidence is admitted, classified, prioritised and presented for clinical review. Helena develops methodologies for deterministic variant classification, structural variation and agentic interpretation, and contributes these ideas through publications, preprints and technical documentation.
Discuss a collaborationA framework that keeps model output outside the class calculation and places human authorization where evidence enters the classifier.
Evaluation methods for concordance, change attribution and failure analysis against documented laboratory comparators.
Folklore brings Helena's classification methods, genomic infrastructure and agentic interpretation into one platform for laboratories and geneticists. It supports structured analysis across panels, exomes and whole genomes while keeping the final interpretation under qualified clinical review.
Explore Folklore5-10 min
whole-genome VCF processing
One platform
classification, evidence and prioritisation
Model-assisted
interpretation under clinical review
Helena works with laboratories, universities and research organisations on genomic interpretation, validation and clinical implementation.