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High LD Regions

Definition
AI-generated

High LD regions are genomic segments where linkage disequilibrium (LD) remains strong over long physical distances—often megabases—so that genotyped variants tag many neighbors.

Why it matters in GWAS

Association peaks in high-LD regions are hard to resolve to a single causal variant without fine-mapping, long-range haplotype information, or functional data; polygenic score and meta-analysis pipelines must handle duplicated signal and long-range correlation. The HLA / MHC locus is the canonical example in human studies.

Example usage

"The signal spanned one of the known high LD regions, so we conditioned on stepwise SNPs before claiming a second independent hit."

References

  • Slatkin M. (2008). Linkage disequilibrium—understanding the evolutionary past and mapping the future. Nat Rev Genet.

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