Agent skill

bio-variant-calling-deepvariant

Deep learning-based variant calling with Google DeepVariant. Provides high accuracy for germline SNPs and indels from Illumina, PacBio, and ONT data. Use when calling variants with DeepVariant deep learning caller.

View SKILL.md on GitHub Repository
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Install this agent skill to your Project

npx add-skill https://github.com/majiayu000/claude-skill-registry/tree/main/skills/data/deepvariant

SKILL.md

DeepVariant Variant Calling

Installation

Docker (Recommended)

bash
docker pull google/deepvariant:1.6.1

# Or with GPU support
docker pull google/deepvariant:1.6.1-gpu

Singularity

bash
singularity pull docker://google/deepvariant:1.6.1

Basic Usage

One-Step Run (run_deepvariant)

bash
docker run -v "${PWD}:/input" -v "${PWD}/output:/output" \
    google/deepvariant:1.6.1 \
    /opt/deepvariant/bin/run_deepvariant \
    --model_type=WGS \
    --ref=/input/reference.fa \
    --reads=/input/sample.bam \
    --output_vcf=/output/sample.vcf.gz \
    --output_gvcf=/output/sample.g.vcf.gz \
    --num_shards=16

Model Types

Model Data Type Use Case
WGS Illumina WGS Whole genome sequencing
WES Illumina WES Whole exome/targeted
PACBIO PacBio HiFi Long-read HiFi
ONT_R104 ONT R10.4 Oxford Nanopore
HYBRID_PACBIO_ILLUMINA Mixed Hybrid assemblies

Step-by-Step Workflow

For more control, run each step separately:

Step 1: Make Examples

bash
docker run -v "${PWD}:/data" google/deepvariant:1.6.1 \
    /opt/deepvariant/bin/make_examples \
    --mode calling \
    --ref /data/reference.fa \
    --reads /data/sample.bam \
    --examples /data/examples.tfrecord.gz \
    --gvcf /data/gvcf.tfrecord.gz

Step 2: Call Variants

bash
docker run -v "${PWD}:/data" google/deepvariant:1.6.1 \
    /opt/deepvariant/bin/call_variants \
    --outfile /data/call_variants.tfrecord.gz \
    --examples /data/examples.tfrecord.gz \
    --checkpoint /opt/models/wgs/model.ckpt

Step 3: Postprocess Variants

bash
docker run -v "${PWD}:/data" google/deepvariant:1.6.1 \
    /opt/deepvariant/bin/postprocess_variants \
    --ref /data/reference.fa \
    --infile /data/call_variants.tfrecord.gz \
    --outfile /data/output.vcf.gz \
    --gvcf_outfile /data/output.g.vcf.gz \
    --nonvariant_site_tfrecord_path /data/gvcf.tfrecord.gz

GPU Acceleration

bash
docker run --gpus all -v "${PWD}:/data" \
    google/deepvariant:1.6.1-gpu \
    /opt/deepvariant/bin/run_deepvariant \
    --model_type=WGS \
    --ref=/data/reference.fa \
    --reads=/data/sample.bam \
    --output_vcf=/data/output.vcf.gz \
    --num_shards=16

PacBio HiFi Calling

bash
docker run -v "${PWD}:/data" google/deepvariant:1.6.1 \
    /opt/deepvariant/bin/run_deepvariant \
    --model_type=PACBIO \
    --ref=/data/reference.fa \
    --reads=/data/hifi_aligned.bam \
    --output_vcf=/data/hifi_variants.vcf.gz \
    --num_shards=16

ONT Calling

bash
docker run -v "${PWD}:/data" google/deepvariant:1.6.1 \
    /opt/deepvariant/bin/run_deepvariant \
    --model_type=ONT_R104 \
    --ref=/data/reference.fa \
    --reads=/data/ont_aligned.bam \
    --output_vcf=/data/ont_variants.vcf.gz \
    --num_shards=16

Exome/Targeted Sequencing

bash
docker run -v "${PWD}:/data" google/deepvariant:1.6.1 \
    /opt/deepvariant/bin/run_deepvariant \
    --model_type=WES \
    --ref=/data/reference.fa \
    --reads=/data/exome.bam \
    --regions=/data/targets.bed \
    --output_vcf=/data/exome_variants.vcf.gz \
    --num_shards=8

Joint Calling with GLnexus

For multi-sample cohorts, use gVCFs with GLnexus:

bash
# Generate gVCFs for each sample
for bam in *.bam; do
    sample=$(basename $bam .bam)
    docker run -v "${PWD}:/data" google/deepvariant:1.6.1 \
        /opt/deepvariant/bin/run_deepvariant \
        --model_type=WGS \
        --ref=/data/reference.fa \
        --reads=/data/$bam \
        --output_vcf=/data/${sample}.vcf.gz \
        --output_gvcf=/data/${sample}.g.vcf.gz \
        --num_shards=16
done

# Joint genotyping with GLnexus
docker run -v "${PWD}:/data" quay.io/mlin/glnexus:v1.4.1 \
    /usr/local/bin/glnexus_cli \
    --config DeepVariantWGS \
    /data/*.g.vcf.gz \
    | bcftools view - -Oz -o cohort.vcf.gz

GLnexus Configurations

Config Use Case
DeepVariantWGS Illumina WGS
DeepVariantWES Illumina exome
DeepVariant_unfiltered Keep all variants

Output Quality Metrics

bash
# Variant statistics
bcftools stats output.vcf.gz > stats.txt

# Filter by quality
bcftools view -i 'QUAL>20 && FMT/GQ>20' output.vcf.gz -Oz -o filtered.vcf.gz

# Ti/Tv ratio (expect ~2.0-2.1 for WGS)
bcftools stats output.vcf.gz | grep TSTV

Benchmarking Against Truth Set

bash
# Using hap.py for GIAB benchmarking
docker run -v "${PWD}:/data" jmcdani20/hap.py:latest \
    /opt/hap.py/bin/hap.py \
    /data/HG002_GRCh38_truth.vcf.gz \
    /data/deepvariant_output.vcf.gz \
    -r /data/reference.fa \
    -o /data/benchmark \
    --threads 16

Complete Workflow Script

bash
#!/bin/bash
set -euo pipefail

BAM=$1
REFERENCE=$2
OUTPUT_PREFIX=$3
MODEL_TYPE=${4:-WGS}
THREADS=${5:-16}

echo "=== DeepVariant: ${MODEL_TYPE} mode ==="

docker run -v "${PWD}:/data" google/deepvariant:1.6.1 \
    /opt/deepvariant/bin/run_deepvariant \
    --model_type=${MODEL_TYPE} \
    --ref=/data/${REFERENCE} \
    --reads=/data/${BAM} \
    --output_vcf=/data/${OUTPUT_PREFIX}.vcf.gz \
    --output_gvcf=/data/${OUTPUT_PREFIX}.g.vcf.gz \
    --intermediate_results_dir=/data/${OUTPUT_PREFIX}_tmp \
    --num_shards=${THREADS}

echo "=== Indexing ==="
bcftools index -t ${OUTPUT_PREFIX}.vcf.gz
bcftools index -t ${OUTPUT_PREFIX}.g.vcf.gz

echo "=== Statistics ==="
bcftools stats ${OUTPUT_PREFIX}.vcf.gz > ${OUTPUT_PREFIX}_stats.txt

echo "=== Complete ==="
echo "VCF: ${OUTPUT_PREFIX}.vcf.gz"
echo "gVCF: ${OUTPUT_PREFIX}.g.vcf.gz"

Comparison with Other Callers

Caller Speed Accuracy Best For
DeepVariant Moderate Highest Production, benchmarking
GATK HaplotypeCaller Moderate High GATK ecosystem
bcftools Fast Good Quick analysis
Clair3 Fast High Long reads

Resource Requirements

Data Type Memory CPU Time (30x WGS)
WGS 64 GB ~4-6 hours
WES 32 GB ~30 min
With GPU 32 GB ~1-2 hours (WGS)

Related Skills

  • variant-calling/gatk-variant-calling - GATK alternative
  • variant-calling/variant-calling - bcftools calling
  • long-read-sequencing/clair3-variants - Long-read alternative
  • variant-calling/filtering-best-practices - Post-calling filtering

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