gatk-variant-caller

Solid

GATK best practices skill for germline and somatic variant calling with joint genotyping

AI & Automation 814 stars 53 forks Updated today MIT

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Quality Score: 93/100

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Skill Content

# GATK Variant Caller Skill ## Purpose Provide GATK best practices for germline and somatic variant calling with joint genotyping support. ## Capabilities - HaplotypeCaller execution - Base quality score recalibration (BQSR) - Variant quality score recalibration (VQSR) - Joint genotyping across cohorts - GVCF generation and management - Mutect2 somatic calling ## Usage Guidelines - Follow GATK best practices workflow - Apply BQSR for improved accuracy - Use VQSR for quality filtering when sample count permits - Generate GVCFs for scalable joint calling - Select Mutect2 for somatic variants - Document resource bundles and versions ## Dependencies - GATK4 - Picard ## Process Integration - Whole Genome Sequencing Pipeline (wgs-analysis-pipeline) - Clinical Variant Interpretation (clinical-variant-interpretation) - Tumor Molecular Profiling (tumor-molecular-profiling) - Rare Disease Diagnostic Pipeline (rare-disease-diagnostics)

Details

Author
a5c-ai
Repository
a5c-ai/babysitter
Created
4 months ago
Last Updated
today
Language
JavaScript
License
MIT

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