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Multi-allelic variant

Definition
AI-generated

A multi-allelic variant is a locus with more than one alternate allele in a cohort or reference context.

Why it matters in GWAS

Multi-allelic sites complicate association encoding, imputation, and collapsing; many pipelines split or left-normalize before testing.

Example usage

"Each multi-allelic variant was split into biallelic records for GWAS compatibility."

References

  • Danecek P, et al. (2011). The variant call format and VCFtools. Bioinformatics.

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