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Loss of heterozygosity (LOH)

Definition
AI-generated

Somatic or germline reduction to homozygosity at a locus—often via deletion or mitotic recombination—revealed in tumor or pedigree contexts.

Topics

Why it matters in GWAS

GWAS hits are interpreted through gene structure, regulation, and variant consequence; molecular vocabulary connects association statistics to mechanism.

Example usage

"Downstream interpretation uses Loss of heterozygosity (LOH) to link statistical findings to biological context."

References

  • Griffiths AJF, et al. (2015). An Introduction to Genetic Analysis. W. H. Freeman.

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