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rare-disease

Here are 3 public repositories matching this topic...

nf-core / raredisease

Call and score variants from WGS/WES of rare disease patients.

workflow pipeline nextflow diagnostics variant-calling wgs snv wes variant-annotation structural-variants nf-core rare-disease

Updated Jan 21, 2025
Nextflow

brentp / rare-disease-wf

(WIP) best-practices workflow for rare disease

genomics variants rare-disease

Updated Jul 1, 2024
Nextflow

uclanelsonlab / nl-rna-seq_wf

RNA-seq for rare diseases pipeline using nextflow

rare-variant-analysis rare-disease nextflow-pipeline rnaseq-pipeline

Updated Jan 17, 2025
Nextflow

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