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Inversion

Definition
AI-generated

An inversion is a structural variant in which a genomic segment is reversed in orientation relative to the reference genome.

Topics

Why it matters in GWAS

Inversions can alter local linkage disequilibrium patterns, suppress recombination, and complicate fine-mapping or haplotype interpretation.

Example usage

"The association signal fell inside a common inversion region with extended LD."

References

  • Sudmant PH, et al. (2015). An integrated map of structural variation in 2,504 human genomes. Nature.

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