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bio-gatk-variant-calling - Call germline variants with GATK

Calls germline SNPs and indels with HaplotypeCaller and GVCF workflows, while covering caller selection, error modeling, and edge cases.

Tags

Updated: 2026-10-07

Capabilities

Typical Inputs

Typical Outputs

What this skill does

  • Call germline variants
  • Generate per-sample GVCFs
  • Joint-genotype GVCFs
  • Reassemble local haplotypes
  • Model read-haplotype likelihoods
  • Handle non-diploid samples
  • Apply BQSR or DRAGSTR
  • Select suitable callers

Inputs

  • Reference genome
  • Aligned BAM files
  • Target intervals
  • Known-site resources
  • Cohort GVCF files
  • Sample analysis context

Outputs

  • Variant VCF files
  • Per-sample GVCF files
  • Joint-genotyped cohort VCF
  • Recalibrated BAM files
  • Variant-calling recommendations

Requirements

  • GATK 4.5 or later
  • bcftools 1.19 or later
  • Command-line tool access

Source

  • Spec: SKILL.md

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bioinformatics
variant calling
GATK
HaplotypeCaller
GVCF
germline
SNP
indel
Call germline variants
Generate per-sample GVCFs
Joint-genotype GVCFs
Reassemble local haplotypes
Reference genome
Aligned BAM files
Target intervals
Variant VCF files
Per-sample GVCF files
Joint-genotyped cohort VCF