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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params {
vcf = null
job_id = null
db_url = null
outdir = "results"
assembly = "GRCh38"
vep_cache = "${projectDir}/cache/vep" // download once with `vep_install`; or use --offline false
vep_plugins = "CADD,AlphaMissense"
}
profiles {
docker { docker.enabled = true }
gcp {
process.executor = 'k8s' // runs inside GKE via Argo; Nextflow k8s executor
workDir = "gs://${params.bucket}/work"
google.project = params.project
}
}
process {
withName: VEP { container = 'ensemblorg/ensembl-vep:release_113.0'; cpus = 4; memory = '8 GB' }
withName: NORMALISE { container = 'quay.io/biocontainers/bcftools:1.20--h8b25389_0' }
withName: LOAD_DB { container = 'ghcr.io/lynchaos/rarelens-loader:latest' }
}