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Variant Missingness

Definition
AI-generated

Variant missingness is the fraction of samples lacking a genotype call for a given SNP or variant.

Topics

Why it matters in GWAS

Variants with high missingness are more likely to reflect assay problems or batch artifacts and can bias downstream association tests or imputation.

Example usage

"SNPs with variant missingness above 1% were filtered out during pre-imputation QC."

References

  • Anderson CA, et al. (2010). Data quality control in genetic case-control association studies. Nat Protoc.

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