5 projects
phenotopo
A QC and explainability toolkit for phenotype cohorts: HPO/Phenopacket quality control, annotation-bias checks, outliers, ontology-aware group comparison and robust cohort structure.
hpo-drift
Diff two Human Phenotype Ontology releases *for your own term list*: renames, obsoletions, parent changes, and how semantic-similarity scores drift.
acmg-points
Points-based ACMG/AMP variant classification (Tavtigian 2020 naturally-scaled system, the basis of SVC v4) side by side with the 2015 combining rules — see where they disagree.
transcriptqc
Is this transcript aligned with the current MANE reference set? MANE Select / MANE Plus Clinical check for RefSeq and Ensembl transcripts, offline, from a versioned MANE snapshot.
gene-tidy
No-code cleaning of messy gene/protein identifier tables, fully offline, with explicit ambiguity handling.
