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Allele-specific analysis of next-generation sequencing data with high-performance multi-format variant support (VCF/cyvcf2/PGEN)

Project description

WASP2 - Allele-Specific Analysis Pipeline

PyPI Bioconda CI Documentation

Installation

Bioconda

mamba install -c conda-forge -c bioconda wasp2

PyPI

pip install wasp2

The PyPI package does not install external tools such as samtools, bcftools, or bedtools; install those separately.

Docker

docker pull ghcr.io/mcvickerlab/wasp2:1.4.1
docker run --rm ghcr.io/mcvickerlab/wasp2:1.4.1 wasp2-count --help

Singularity/Apptainer

singularity pull wasp2.sif docker://ghcr.io/mcvickerlab/wasp2:1.4.1
singularity exec wasp2.sif wasp2-count --help

CLI Tools

WASP2 installs three command-line entry points:

  • wasp2-map
  • wasp2-count
  • wasp2-analyze

Quick Start

1. Correct mapping bias

wasp2-map make-reads input.bam variants.vcf.gz -s sample1 -o remap_dir

# Realign remap_dir/*_swapped_alleles_r1.fq and r2.fq with the same aligner
# and settings used for the original BAM, then:

wasp2-map filter-remapped remapped.bam \
  -j remap_dir/input_wasp_data_files.json \
  -o filtered.bam

2. Count alleles

wasp2-count count-variants filtered.bam variants.vcf.gz -s sample1 -o counts.tsv

3. Test for imbalance

wasp2-analyze find-imbalance counts.tsv -o ai_results.tsv

Single-Cell Example

wasp2-count count-variants-sc \
  cellranger.bam \
  variants.vcf.gz \
  barcodes.tsv \
  --samples sample1 \
  --feature genes.gtf \
  --out_file allele_counts.h5ad

wasp2-analyze find-imbalance-sc \
  allele_counts.h5ad \
  barcode_groups.tsv \
  --sample sample1 \
  -o ai_results.tsv

See the documentation for complete usage, tutorials, and API details.

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