variant-annotation

Here are 2 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 Feb 24, 2025
Nextflow

nf-core / tumourevo

Star

Analysis pipleine to model tumour clonal evolution from WGS data (driver annotation, quality control of copy number calls, subclonal and mutational signature deconvolution)

workflow quality-control pipeline nextflow cancer-genomics population-genetics copy-number-variation variant-annotation mutational-signatures cancer-evolution nf-core subclonal-deconvolution

Updated Jan 30, 2025
Nextflow

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