Darwin Longraredisease

Rare disease variant calling from long-read sequencing including SNVs, SVs, repeat expansions, and methylation Steps: Step 1: NanoStat Read QC; Step 2: Minimap2 Alignment; Step 3: SNV/Indel Calling (DeepVariant); Step 4: SV Calling (Sniffles2); Step 5: Repeat Expansion Detection (TRGT); Step 6: CpG Methylation (modkit); Step 7: Variant Annotation (VEP); Step 8: Clinical Report. Verticals: rare_disease, clinical_genomics.

Use in DarwinOmics

How to use it

Use this workflow element when the submitted analysis needs a multi-step execution path, imported workflow, Darwinomics wrapper, or workflow-scale comparison rather than a single module.