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Haplotype

Definition
AI-generated

A haplotype is the set of alleles on a single chromosome copy that tend to be inherited together across a region or the genome.

Topics
Core genetics
Related
Compound Heterozygote Genotype Genotype Imputation

Why it matters in GWAS

GWAS genotypes are usually unphased summaries; haplotypes underpin genotype imputation, interpretation of compound heterozygotes, some association models, and analyses that use identity-by-descent or local ancestry along chromosomes.

Example usage

"The risk haplotype spanned three tagging SNPs in high LD across the associated interval."

Compound Heterozygote Genotype Genotype Imputation Haplotype Reference Consortium (HRC) Identity by Descent (IBD) Linkage Disequilibrium (LD) Haplotype Phasing Single Nucleotide Polymorphism (SNP)
Related-term network

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Node order. The current term is first. Next come every page linked from Related terms, in the same top-to-bottom order as that list. Then new terms appear in two-hop layers: for each of those direct neighbors (in that same order), their related terms are appended if not already listed. A third pass does the same for two-hop nodes. The walk stops when a fixed maximum number of nodes is reached.

References

  • Sun Q, Li Y. (2026). Advances in haplotype phasing and genotype imputation. Nat Rev Genet. https://doi.org/10.1038/s41576-025-00895-2
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