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Genotype calling

Definition
AI-generated

Probabilistic assignment of diploid (or sex-aware) genotypes from aligned reads or summarized intensities at variant sites.

Topics

Why it matters in GWAS

Bioinformatics methods determine how variants, expression, and epigenetic state are measured and summarized—shaping GWAS covariates, multi-omic integration, and functional follow-up.

Example usage

"At this locus, Genotype calling annotations were used to prioritize plausible biological mechanisms."

References

  • Lesk AM. (2019). Introduction to Bioinformatics. Oxford University Press.

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