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Sample Missingness

Definition
AI-generated

Sample missingness is the fraction of genotype calls missing for a given individual across assayed variants.

Topics

Why it matters in GWAS

Samples with high missingness are often low quality and can introduce technical artifacts, spurious ancestry patterns, and reduced power.

Example usage

"We excluded individuals with sample missingness above 2% before PCA and relatedness filtering."

References

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

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