kemal
5463f489a3
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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.
12 lines
279 B
Plaintext
12 lines
279 B
Plaintext
process NORMALISE {
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tag "$vcf.simpleName"
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input: path vcf
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output: path "${vcf.simpleName}.norm.vcf.gz", emit: vcf
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script:
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"""
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bcftools norm -m -both -Oz -o ${vcf.simpleName}.norm.vcf.gz $vcf
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bcftools index -t ${vcf.simpleName}.norm.vcf.gz
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"""
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}
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