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.
This commit is contained in:
2026-09-11 16:55:35 +01:00
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process NORMALISE {
tag "$vcf.simpleName"
input: path vcf
output: path "${vcf.simpleName}.norm.vcf.gz", emit: vcf
script:
"""
bcftools norm -m -both -Oz -o ${vcf.simpleName}.norm.vcf.gz $vcf
bcftools index -t ${vcf.simpleName}.norm.vcf.gz
"""
}