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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#!/usr/bin/env nextflow
nextflow.enable.dsl = 2
include { NORMALISE } from './modules/normalise'
include { VEP } from './modules/vep'
include { LOAD_DB } from './modules/load_db'
workflow {
if (!params.vcf) error "Provide --vcf"
vcf_ch = Channel.fromPath(params.vcf, checkIfExists: true)
NORMALISE(vcf_ch)
VEP(NORMALISE.out.vcf)
LOAD_DB(VEP.out.tsv, params.job_id ?: 'local', params.db_url ?: 'none')
}