longraredisease
CommunityRun rare-disease long-read analysis fast
Education & Research#bioinformatics#nf-core#nextflow#rare disease#variant-calling#long-read sequencing
Authordanilomonge
Version1.0.0
Installs0
System Documentation
What problem does it solve?
nf-core/longraredisease removes the manual effort of configuring a complex rare-disease sequencing workflow by packaging the pipeline, its parameters, and its run instructions into one dependable skill.
Core Features & Use Cases
- Long-read variant analysis: Run SNV, SV, CNV, STR, and methylation workflows for Oxford Nanopore or PacBio data.
- Clinical-style guardrails: Use schema-validated inputs, pinned releases, and documented outputs to avoid invalid runs and guesswork.
- Reproducible execution: Keep provenance, parameter constraints, and pipeline documentation aligned so results are easier to review and repeat.
Quick Start
Ask the assistant to run the longraredisease pipeline for your samplesheet and FASTA genome, then save the results in your chosen output directory.
Dependency Matrix
Required Modules
None requiredComponents
Standard package💻 Claude Code Installation
Recommended: Let Claude install automatically. Simply copy and paste the text below to Claude Code.
Please help me install this Skill: Name: longraredisease Download link: https://github.com/danilomonge/nf-claw/archive/main.zip#longraredisease Please download this .zip file, extract it, and install it in the .claude/skills/ directory.
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