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."
Related terms¶
References¶
- Danecek P, McCarthy SA. (2017). BCFtools/csq: haplotype-aware variant consequences. Bioinformatics.
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