Initial release: rarelens platform skeleton (AGPL-3.0)
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End-to-end variant interpretation platform for rare genetic disease research: SvelteKit UI, FastAPI + PostgreSQL API, Nextflow/Ensembl VEP pipeline, LightGBM pathogenicity scoring with MLflow, K8s/ArgoCD/GCP infrastructure. Public test data only; no clinical claims.
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.PHONY: up down migrate test pipeline kind lint
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up:
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docker compose up -d --build
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down:
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docker compose down -v
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migrate:
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docker compose exec api alembic upgrade head
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test:
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cd api && uv run pytest -q
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cd web && npm test
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lint:
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cd api && uv run ruff check . && uv run mypy app
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cd web && npm run check
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pipeline:
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cd pipeline && nextflow run main.nf -profile docker --vcf ../data/example.vcf.gz --outdir results
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kind:
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kind create cluster --name rarelens || true
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kubectl apply -k infra/k8s/overlays/local
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