Info and QC
info, info calculate-coverage, qc fastqc, qc fastp, qc vcf, and qc fake-data help inspect inputs, test pipelines, and quality-check reads or variants.
Command reference
The CLI is the best interface for repeatable work: scripts, batch jobs, remote machines, AI-agent workflows, and long-running analyses where exact commands matter.
Most commands accept shared options before the subcommand, and many commands also accept them after the subcommand because WGS Extract re-applies explicit shared options across parsers.
pixi run wgsextract \
--input sample.cram \
--outdir out/sample \
--ref /refs/hs38.fa \
--threads 8 \
--memory 16G \
info --detailed
Run pixi run wgsextract help or pixi run wgsextract --full-help for the live tree from your installed version.
info, info calculate-coverage, qc fastqc, qc fastp, qc vcf, and qc fake-data help inspect inputs, test pipelines, and quality-check reads or variants.
bam sort, bam index, bam to-cram, bam to-bam, bam unalign, bam identify, plus repair helpers for FTDNA files.
extract mito-fasta, extract mito-vcf, extract mt-bam, extract ydna-bam, extract ydna-vcf, extract y-mt-extract, extract unmapped, and extract custom.
vcf snp, vcf indel, vcf sv, vcf cnv, vcf freebayes, vcf gatk, vcf deepvariant, vcf filter, vcf trio, and annotation commands.
ref bootstrap, ref library, ref index, ref verify, ref gene-map, annotation downloads, and vep download/run/verify.
microarray, lineage y-haplogroup, lineage mt-haplogroup, align, analyze comprehensive, example-genome, pet-align, and benchmark.
These examples are intentionally small and explicit. Replace paths and references with your own.
# Identify a BAM/CRAM and inspect metadata
pixi run wgsextract --input sample.cram info --detailed
# Sort and index an alignment
pixi run wgsextract --input sample.bam --outdir out/sample bam sort
pixi run wgsextract --input out/sample/sample.sorted.bam bam index
# Convert BAM to CRAM for storage
pixi run wgsextract --input sample.bam --ref /refs/hs38.fa bam to-cram
# Generate consumer microarray-style outputs
pixi run wgsextract --input sample.bam microarray --formats 23andme_v5,ancestry_v2
# Extract mitochondrial variants and Y-DNA reads
pixi run wgsextract --input sample.bam extract mito-vcf --region chrM
pixi run wgsextract --input sample.bam extract ydna-bam
# Call and filter variants
pixi run wgsextract --input sample.bam --ref /refs/hs38.fa vcf snp
pixi run wgsextract vcf filter --vcf-input calls.vcf.gz --expr 'QUAL>30'
# Show the full command tree
pixi run wgsextract help
Some specialized tools live in dedicated Pixi environments to keep dependency solving practical and platform-specific.
General CLI, samtools/bcftools, bwa/minimap2, fastp/fastqc, freebayes, GATK, and common workflows.
pixi run wgsextract deps check
PacBio-aware structural variant workflows using pbmm2, pbsv, and sniffles where available.
pixi run -e pacbio wgsextract vcf sv --pacbio
DeepVariant workflows, including WGS/WES and PacBio HiFi model options where supported.
pixi run -e deepvariant wgsextract vcf deepvariant
Genome jobs are expensive. These habits prevent wasted hours and corrupted assumptions.
Try chrM, chrY, or a small gene region before whole-genome commands.
Use --outdir per sample or --genome folders to avoid mixing files.
Keep BAM/CRAM, FASTA, VCF, gene maps, and annotations on the same reference build.
Save exact commands, Pixi environment, reference build, and tool versions for repeatability.