bio-workflows-longread-sv-pipeline

Detect structural variants from long-read sequencing data using Sniffles or cuteSV.

Updated Aug 23, 2026
One-click install
npx skills add https://github.com/stellaromics/fast-bioinfo --skill bio-workflows-longread-sv-pipeline
Or copy as Structured Prompt for Agent
Please help me install this Agent Skill.
Skill: bio-workflows-longread-sv-pipeline
Source: https://github.com/stellaromics/fast-bioinfo/tree/main/.claude/agents/spatial-analysis/skills/bio-workflows-longread-sv-pipeline
Command: npx skills add https://github.com/stellaromics/fast-bioinfo --skill bio-workflows-longread-sv-pipeline

SYSTEM DOCUMENTATION & REQUIREMENTS

What problem does it solve?

Long-read sequencing experiments generate rich data but require a guided, end-to-end workflow to detect structural variants efficiently and reproducibly.

Core Features & Use Cases

  • End-to-end SV detection: from QC and alignment to SV calling with Sniffles or cuteSV, filtering, and optional annotation.
  • Multi-sample support: supports joint analysis and merging SV calls across samples.
  • Adaptable for ONT and PacBio: handles both nanopore and HiFi data with appropriate mapper and caller settings.

Quick Start

Run the long-read SV pipeline on ONT or PacBio data to detect structural variants using minimap2 and Sniffles or cuteSV.

Frequently Asked Questions about bio-workflows-longread-sv-pipeline

High-intent search queries and answers about installing and using this skill.

FAQPage Schema
How do I detect structural variants from long-read sequencing data?

You can detect structural variants from long-read sequencing data by running an end-to-end pipeline that applies QC, alignment with minimap2, SV calling using Sniffles or cuteSV, and optional annotation to produce a VCF file and QC reports.

Does this structural variant pipeline work with both ONT and PacBio data?

Yes, the structural variant pipeline works with both ONT and PacBio data, automatically applying the appropriate mapper and caller settings for nanopore and HiFi reads to ensure accurate SV detection.

What is the best way to merge structural variant calls across multiple samples?

The best way to merge structural variant calls across multiple samples is to use a pipeline that supports joint analysis, allowing you to combine SV calls from Sniffles or cuteSV outputs for multi-sample evaluation.

Do I need minimap2 and Sniffles installed to run the long-read SV pipeline?

Yes, you need minimap2 and Sniffles and/or cuteSV installed to run the long-read SV pipeline, as these tools handle the read alignment and structural variant calling processes required to generate the final VCF output.

Can I annotate structural variants detected by cuteSV or Sniffles?

Yes, you can annotate structural variants detected by cuteSV or Sniffles using optional annotation tools integrated into the pipeline, adding context to the filtered VCF of SV calls for downstream analysis.