IEI genetics database

Streamline genetic diagnosis of IEI

to quantify both known and uncertain evidence into a single, evidence-based conclusion

What we offer

Pre-calculated variant probabilities
- Prior probabilities for 54 814 ClinVar variants across 557 IEI genes
- Integrates population allele frequencies, ClinVar classifications and Hardy-Weinberg expectations under AD, AR and X-linked models
- Available as flat files with TSV, Rds and HTML interface
Gene summary datasets
- Per-gene summaries of pathogenic burden and inheritance mode distribution
- Aligned to IUIS classification and ACMG guidelines
- Ready for direct import into your analysis pipelines

What you can do

Evidence-aware diagnosis
- Combine observed and unobserved variants in a Bayesian framework
- Generate posterior probabilities with credible intervals for each candidate gene or variant
- Distinguish supported, plausible-but-unseen and excluded findings
Streamlined reporting
- Produce structured, confidence-ranked reports for clinicians or end users
- Accelerate candidate gene ranking and manual review
Seamless integration
- Plug in datasets as a diagnostic engine into your bioinformat platform
- Reduce manual curation, speed up turnaround and deliver a consistent, high-confidence product

Free version

The public base model IEI genetics database is available at:

https://iei-genetics.github.io

This resource provides core data, and the related publication covers the foundational technical implementations. Full text: PDF link.

Please cite:

@article {Lawless2025VarRiskEst,
	author = {Lawless, Dylan},
	title = {Quantitative prior probabilities for disease-causing variants reveal the top genetic contributors in inborn errors of immunity},
	year = {2025},
	doi = {10.1101/2025.03.25.25324607},
	publisher = {Cold Spring Harbor Laboratory Press}
}

Professional version