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.
Topics
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."
Related terms¶
References¶
- Poplin R, et al. (2017). Scaling accurate genetic variant discovery to tens of thousands of samples. bioRxiv (GATK).
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