KaryoSolver – 4bases

KaryoSolver was born from the need to make molecular karyotyping faster, clearer, and more reliable.

Traditional workflows often slow down labs with complex tools and inconsistent reporting. Our goal was to create a platform that transforms raw array or NGS copy-number data into clinically meaningful insights — quickly and with full ISCN compliance.

The project has been proudly developed in collaboration with the group of Prof. Magi at the University of Florence, combining technological innovation with deep expertise in medical genetics.

KaryoSolver is not just a tool, but part of a broader vision: to empower diagnostic laboratories with solutions that ensure accuracy, traceability, and confidence in every clinical decision.

Key outcomes

Faster, reproducible CNV interpretation aligned to ACMG/ClinGen rules.
Standardized ISCN 2020 strings for records and referrals.
Evidence-rich reports that withstand internal and external review.

Core capabilities

Automated ISCN (2020)
Generate ISCN strings for whole-chromosome, arm-level, segmental, and mosaic events; guardrails flag syntax and ploidy inconsistencies.
Evidence-based CNV classification
Built around the ACMG/ClinGen quantitative scoring framework, with transparent point attribution, gene-dosage context, and literature links.
Deep annotation stack
- ClinGen Dosage Sensitivity (haplo/triplosensitivity).
- Population frequencies; optional internal prevalence.
- Gene content, constraint metrics, ClinVar cross-refs.
- Mosaicism and alleliv c imbalance.
Report designer
Final downloadable report includes ISCN, clinical summary, interpretation rationale, and appendices with evidence tables and graphs.

Use cases

Prenatal: aneuploidies, segmental CNVs, ROH/UPD investigation.
Postnatal/constitutional: DD/ID, ASD, multiple congenital anomalies.
Oncology (research): copy-number landscapes, purity/ploidy context, arm-level imbalances.

See KaryoSolver in action

Book a live demo or request a pilot with your historical data.

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