bwa-mem2-dna-alignerlisted
Install: claude install-skill jaechang-hits/SciAgent-Skills
# BWA-MEM2 — DNA Short-Read Aligner
## Overview
BWA-MEM2 aligns short DNA reads (Illumina, 50–250 bp) to a reference genome using the BWT-FM index. It is the standard aligner for whole-genome sequencing (WGS), whole-exome sequencing (WES), ChIP-seq, and ATAC-seq DNA alignment. BWA-MEM2 is 2× faster than the original BWA-MEM while producing identical results. It outputs SAM format with proper read group (`@RG`) headers required by GATK HaplotypeCaller and Picard tools. For paired-end reads, it marks proper pairs and resolves chimeric/split reads into supplementary alignments.
## When to Use
- Aligning WGS or WES Illumina reads to a reference genome for variant calling (SNP, indel, SV)
- ChIP-seq or ATAC-seq DNA alignment to produce BAM files for peak calling with MACS3
- Producing GATK-compatible BAM files with `@RG` read group tags
- Aligning reads ≥ 50 bp; for shorter reads (< 50 bp), BWA-backtrack may be more appropriate
- Re-aligning legacy FASTQ files to an updated reference genome assembly
- Use **STAR** instead for RNA-seq reads that span splice junctions
- Use **Bowtie2** as an alternative for local alignment or when index size must be minimized
## Prerequisites
- **Software**: bwa-mem2 (conda or pre-compiled binary), samtools
- **Reference**: genome FASTA (e.g., GRCh38, hg19, mm10)
- **RAM**: ~28 GB for human genome index; 6–8 GB for mouse
> **Check before installing**: The tool may already be available in the current environment (e.g., inside a `pixi` / `conda