Quant
The missing element in genomic interpretation. Database, scan, and state-of-the-art algorithm.
Explore our suite of technologies and databases designed for advanced discovery, precision diagnostics, and clinical clarity.
The next generation of genomic inference, integrating observed findings, missing possibilities and unresolved uncertainty into a verifiable causal account.
Improve on familiar genomic concepts, while turning evidence and workflows into structured data that can be reviewed, exchanged and reused.
The fastest way to understand a VCF before reading a single variant.
The open standard for variant interpretation, with trusted QV sets to enhance clarity and reproducibility in WGS.
A browser-based ACMG/AMP evidence review and classification validator for structured variant interpretation, caveat checking, multi-variant case review, and report export.
Build free structured clinical pedigrees, record phenotype and genomic findings, and export publication-ready figures and technical reports, and pedigree chart.
Preserve, govern and exchange genomic data, evidence and provenance so that results remain accessible, auditable and reusable.
Identify and organise biological knowledge. Gene panel databases, variant discovery, and genetic epidemiology.
The leading disease-gene panel app database with sophisticated search, designed to simplify the discovery of disease.
Manhattan plots are for GWAS. Archipelago plots are for complex variant association studies.
Streamline genetic diagnosis of IEI to quantify both known and uncertain evidence into a single, evidence-based conclusion
Estimate the maximum minor allele frequency (MAF) your cohort can support. A quick, transparent tool for setting MAF thresholds in human WGS cohort analysis.