R (CRAN) and multi-platforms
View metrics for R package downloads: CRAN downloads .
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Archipelago: Manhattan plots are for GWAS. Archipelago plots are for complex variant association studies, published in Lawless et al (2026) Genetic Epidemiology.
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VCFheader: parsing VCF headers and generating structured standalone HTML reports, described in Lawless (2026).
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Evidence ratio: a universal metric for clinical trials and studies by standardising results on a likelihood-based evidence scale, described in Lawless (2026).
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QuantBayes (engine): standardises how evidence strength is expressed - quantifying genomic variant evidence sufficiency with Bayesian posterior intervals, preprinted in Quant Group et al (2025).
Web, desktop, and databases
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PanelAppRex AI: harmonised disease-gene panels from structured clinical and genetic queries, preprinted in Quant Group et al (2026) Bioinformatics Advances.
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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.
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Genomic Vault: Private health genomic custody. Providing long-term custody and controlled access for genomics and precision medicine.
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Qualifying variant database: the open standard for variant interpretation. Defining reusable YAML criteria for reproducible genomic variant interpretation, published in Lawless et al (2026), Bioinformatics.
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IEI genetics database: genetic panels and prior probabilities for disease-causing variants in inborn errors of immunity, Lawless et al (2025) and Soomann et al (2025) Pediatric Infectious Disease Journal.
Normative standards
SGA-QEM-1.0.0:
Qualifying Evidence Matrix (QEM) defines a minimal binary matrix for recording whether verifiable evidence is present or absent for evaluated items.
SGA-QVSS-1.0.0:
Qualifying Variant Set Standard (QVSS) defines a portable, auditable, and reusable way to represent rule-based criteria for qualifying records of genetic variation.
SGA-ERSS-1.0.0:
Evidence Ratio Reporting Standard (ERRS) defines a minimal, model-agnostic reporting structure for likelihood-based statistical evidence using an effect estimate, uncertainty interval, and evidence ratio.
