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Genotype Dosage

Definition
AI-generated

Genotype dosage is the expected count of a counted allele at a variant (often 0–2 in diploids), computed from imputed posterior genotype probabilities or from explicit dosage fields in formats such as VCF DS or Oxford BGEN.

Topics

Why it matters in GWAS

Dosages feed association models (e.g. PLINK 2 --glm), allele frequency and MAC filters, and PCA/GRM when software is dosage-aware, improving power and calibration after imputation compared with arbitrary hard-call thresholds.

Example usage

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

References

  • PLINK 2.0 dosage import settings: https://www.cog-genomics.org/plink/2.0/input#dosage%5Fimport%5Fsettings

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