bio-workflows-fastq-to-variants

Orchestrate FASTQ-to-variant workflows with QC, alignment, and variant calling.

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

SYSTEM DOCUMENTATION & REQUIREMENTS

What problem does it solve?

This workflow automates the end-to-end process of turning raw FASTQ reads into high-confidence variant calls, reducing manual integration work for sequencing analyses.

Core Features & Use Cases

  • QC and preprocessing of FASTQ data with fastp
  • Alignment of reads with bwa-mem2 and BAM generation
  • BAM processing: sorting, deduplication, and indexing
  • Variant calling with bcftools or GATK, including joint calling options
  • Flexible use for whole-genome or exome projects, with optional BQSR

Quick Start

Provide paired-end FASTQ files and a reference genome, then run the workflow to generate a final VCF.

Frequently Asked Questions about bio-workflows-fastq-to-variants

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

FAQPage Schema
How do I call DNA variants from raw FASTQ files?

To call DNA variants from raw FASTQ files, you need a workflow that performs QC, read alignment, BAM processing, and variant calling. This process automates those steps using fastp, bwa-mem2, samtools, and bcftools or GATK to generate a final VCF.

What is the best way to run an end-to-end DNA sequencing workflow for exome data?

An end-to-end DNA sequencing workflow for exome data should handle QC, alignment, and variant calling. This workflow supports exome projects and offers optional BQSR, utilizing tools like bwa-mem2 and bcftools or GATK to produce high-confidence variant calls.

Does this FASTQ to VCF workflow support both bcftools and GATK for variant calling?

Yes, this FASTQ to VCF workflow supports both bcftools and GATK for variant calling. It provides a choice between these tools, including joint calling options, to accommodate different analysis preferences and project requirements.

Do I need a reference genome and known-site resources for variant calling?

Yes, you need a reference genome to align reads and generate variant calls. If you choose to perform optional BQSR, you also need known-site resources for recalibration to achieve high-confidence variant calls.

Can I use this workflow for whole-genome sequencing data?

Yes, you can use this workflow for whole-genome sequencing data. It is flexible enough to handle both whole-genome and exome projects, automating the end-to-end process from raw FASTQ reads to high-confidence variant calls.