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Cohort call set

Definition
AI-generated

A cohort call set is a unified VCF produced by joint genotyping many samples with consistent pipelines—contrasted with single-sample call sets merged post hoc.

Why it matters in GWAS

Harmonized cohort call sets underpin rare-variant frequency estimates, relatedness checks, and cross-study meta-analysis.

Example usage

"The release included a multisample cohort call set with GVCF-based joint calling."

References

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

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