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Locus

Definition
AI-generated

A locus (plural loci) is a specific position or region in the genome, often identified by a chromosomal coordinate or a named gene interval.

Topics
Plural
loci

Why it matters in GWAS

GWAS results are reported as significant loci—regions where variants statistically associate with a trait—before fine-mapping narrows candidate causal variants within each interval.

Example usage

"The lead SNP on chromosome 1 defined a 200 kb risk locus containing three protein-coding genes."

References

  • Uffelmann E, et al. (2021). Genome-wide association studies. Nat Rev Methods Primers. https://doi.org/10.1038/s43586-021-00056-9

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