Genomics keeps advancing. Too many unanswered cases.
Exome and genome sequencing often leave questions unanswered. Evidence accumulates across variants, clinical findings, and new discoveries, yet remains scattered across tools and teams. Hypotheses lose context, reasoning becomes difficult to trace, and investigations are repeated instead of advanced.
For the people who work on unresolved cases.
Clinical geneticists, Genetic counsellors, Variant scientists, Bioinformaticians, Lab leads, Department heads.
Every lead checkable, every next step yours to order.
Clinical geneticists · Genetic counsellors
One versioned pipeline, every classification on record.
Variant scientists · Bioinformaticians
One shared record of who decided what, and what changed since.
Lab leads · Department heads
Specialised AI models. One connected investigation.
Start with the data you have. Investigate beyond what’s known.
From variant call files (VCF) and aligned reads (BAM or CRAM) to raw sequencing reads (FASTQ), Tulparus brings genomic data into one connected investigation. Different variant classes are analysed across single patients or families, with methods suited to the data available.
Clinician-led decisions
AI investigates. Clinicians decide.
Tulparus prioritises hypotheses and explains its reasoning. Your team reviews the evidence and makes every clinical decision.
Reproducible by design
Every result has a history.
Models, knowledge sources and analysis versions are recorded, so every finding is traceable and reproducible.
Validated with transparency
Performance you can examine.
Model evaluations, benchmark results and known limits: where Tulparus does well and where uncertainty remains. Validation
Reanalysis as knowledge evolves
Each new release re-checks the open cases it touches.
Curated gene links
A new gene–disease link
Open cases with a candidate in that gene are checked again.
Variant databases
A variant is reclassified
Cases that hold the variant are flagged for review.
Population data
New population frequencies
Rarity is measured again against the new numbers.
Phenotype ontology
Phenotype terms change
Renamed or merged terms are remapped and shown to you.
Every re-check records the knowledge release and pipeline version it ran on.
Tulparus supports clinical investigation and interpretation. Final decisions stay with qualified professionals.