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 VEP {
tag "$vcf.simpleName"
publishDir params.outdir, mode: 'copy'
input: path vcf
output:
path "${vcf.simpleName}.vep.tsv", emit: tsv
path "${vcf.simpleName}.vep_summary.html"
script:
"""
vep -i $vcf -o ${vcf.simpleName}.vep.tsv --tab \\
--assembly ${params.assembly} --cache --dir_cache ${params.vep_cache} --offline \\
--everything --pick --af_gnomade --plugin CADD --plugin AlphaMissense \\
--stats_file ${vcf.simpleName}.vep_summary.html --fork ${task.cpus}
"""
}