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Callability

Definition
AI-generated

Callability describes whether a locus or sample meets preset evidence thresholds for reliable genotype inference—typically combining depth, mapping and base quality, and sometimes allelic balance or strand balance.

Why it matters in GWAS

Differences in callability across ancestries or batches can create artifactual frequency shifts; explicit callability models underpin GVCF and joint genotyping workflows.

Example usage

"Per-site callability was exported alongside the VCF for downstream masking."

References

  • Poplin R, et al. (2017). Scaling accurate genetic variant discovery to tens of thousands of samples. bioRxiv (GATK).

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