DeepVariant Caller Skill

Purpose

Enable DeepVariant deep learning variant calling for high-accuracy SNV and indel detection.

Capabilities

• GPU-accelerated variant calling
• WGS/WES/PacBio mode selection
• Model customization and retraining
• Confidence calibration
• Multi-sample variant calling
• Docker/Singularity deployment

Usage Guidelines

• Select appropriate model for sequencing type
• Use GPU acceleration when available
• Validate accuracy against benchmark datasets
• Consider container deployment for reproducibility
• Document model version and parameters
• Compare with traditional callers for validation

Dependencies

• DeepVariant
• Parabricks

Process Integration

• Whole Genome Sequencing Pipeline (wgs-analysis-pipeline)
• Long-Read Sequencing Analysis (long-read-analysis)
• Analysis Pipeline Validation (pipeline-validation)