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Multiallelic Variant

Definition
AI-generated

A multiallelic variant is a site with more than one alternative allele relative to the reference at the same genomic position.

Topics

Why it matters in GWAS

Multiallelic sites complicate QC, harmonization, and meta-analysis because effect estimates and allele coding must be tracked for each alternate allele separately.

Example usage

"The multiallelic variant was split into separate biallelic records before association analysis."

References

  • Danecek P, McCarthy SA. (2017). BCFtools/csq: haplotype-aware variant consequences. Bioinformatics.

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