Releases

Quant calc 001: Base model with structured priors, full statistical framework, and real-world application. (Early access partners)
Quant calc 000: Minimal prototype showcasing core Bayesian engine, public data, and open-source code.
DOI | PDF | Video
Qualifying variant (QV): The QV database offers an open, shareable, and reproducible framework for genomic interpretation.
DOI | PDF | Video | Database
Archipelago: R package for summary and interpretation of variant set association test statistics (GitHub).
DOI | PDF | Repository
PanelAppRex basic: R setup and data for building an open-source base model (GitHub and Zenodo).
DOI | PDF | Repository | Video | Application | Dataset
Genetic diagnosis of inborn-errors of immunity (IEI): open-source, world-leading database of IEI genetics provided as a subset of PanelAppRex for the community.
Homepage | Database | Repository

Media