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bio-read-alignment-bwa-alignment - Align DNA short reads with BWA-MEM2

Align paired-end or single-end DNA short reads to a reference genome with BWA-MEM2 or BWA-MEM, including read groups and BAM output preparation.

Tags

Updated: 2026-10-04

Capabilities

Typical Inputs

Typical Outputs

What this skill does

  • Align paired-end reads
  • Align single-end reads
  • Build reference indexes
  • Inject read groups
  • Stream coordinate-sorted BAM
  • Prepare duplicate-marked BAM
  • Preserve SV split reads
  • Support ALT-aware mapping

Inputs

  • DNA FASTQ reads
  • Reference genome FASTA
  • Read-group metadata
  • Reference ALT/decoy files
  • Output BAM path

Outputs

  • Aligned BAM file
  • Coordinate-sorted BAM file
  • Duplicate-marked BAM file
  • BAM index file
  • Alignment records with read groups
  • Supplementary split alignments

Requirements

  • bwa-mem2 2.2.1 or later
  • BWA 0.7.17 or later
  • samtools 1.19 or later
  • Command-line execution environment
  • Sufficient compute and memory
  • ALT-aware downstream support for ALT mapping

Source

  • Spec: SKILL.md

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DNA sequencing
short-read alignment
BWA-MEM2
reference genome
BAM
read groups
variant calling
structural variants
Align paired-end reads
Align single-end reads
Build reference indexes
Inject read groups
DNA FASTQ reads
Reference genome FASTA
Read-group metadata
Aligned BAM file
Coordinate-sorted BAM file
Duplicate-marked BAM file