gbadedata/clinvar-variant-prioritisation-workflow: Reproducible variant prioritisation workflow for inherited disease genomics with scoring, reporting, visual outputs, Docker, CI, and evidence tracking. (opens in new tab)

Variant prioritisation often starts with a table. But a table alone does not answer the most important question: Which variants deserve closer review, and why? The ClinVar Variant Prioritisation Workflow was built to answer that question with transparent scoring, validation, reporting, Docker, and CI. Repository: GitHub Tech Stack Python pandas Pydantic matplotlib pytest Make Docker GitHub Actions mamba What the Workflow Does The workflow takes a curated inherited-disease variant dataset and ...