Technologies

  • PanelAppRex AI: harmonised disease-gene panels from structured clinical and genetic queries, preprinted in Quant Group et al (2025). GitHub stars Dataset DOI

  • QuantBayes Studio: Commercial spin off. “Trust your result. Measure the evidence behind it.” QuantBayes Studio turns your analysis into evidence-based conclusions. One evidence layer for AI, science, engineering, and regulated work.

  • QuantBayes (engine): standardises how evidence strength is expressed - quantifying genomic variant evidence sufficiency with Bayesian posterior intervals, preprinted in Quant Group et al (2025). CRAN version CRAN downloads Zenodo DOI

  • Genomic Vault: Private health genomic custody. Providing long-term custody and controlled access for genomics and precision medicine.

  • Archipelago: Manhattan plots are for GWAS. Archipelago plots are for complex variant association studies, published in Lawless et al (2026). CRAN version CRAN downloads

  • Qualifying variant database: the open standard for variant interpretation. Defining reusable YAML criteria for reproducible genomic variant interpretation, published in Lawless et al (2026).

  • VCFheader: parsing VCF headers and generating structured standalone HTML reports, described in Lawless (2026). CRAN version CRAN downloads

  • Evidence ratio: a universal metric for clinical trials and studies by standardising results on a likelihood-based evidence scale, described in Lawless (2026). CRAN version CRAN downloads

  • IEI genetics database: genetic panels and prior probabilities for disease-causing variants in inborn errors of immunity, preprinted in Lawless et al (2025).

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