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Haplotype Phasing

Definition
AI-generated

Phasing assigns alleles at heterozygous sites to maternal and paternal chromosome copies, producing haplotypes.

Topics
GWAS
Related
Compound Heterozygote Genotype Imputation Genome-Wide Association Study (GWAS)

Why it matters in GWAS

Pre-phasing followed by imputation is standard for increasing variant density and meta-analytic compatibility; phasing also matters for interpreting compound heterozygotes and some functional readouts outside routine SNP GWAS.

Example usage

"The QC and association pipeline includes Haplotype Phasing as a standard preprocessing or analysis component."

Compound Heterozygote Genotype Imputation Genome-Wide Association Study (GWAS) Haplotype Imputation Reference Panel Linkage Disequilibrium (LD)
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

  • Howie BN, Fuchsberger C, Stephens M, Marchini J, Abecasis GR. (2012). Fast and accurate genotype imputation in genome-wide association studies through pre-phasing. Nat Genet.
  • Sun Q, Li Y. (2026). Advances in haplotype phasing and genotype imputation. Nat Rev Genet. https://doi.org/10.1038/s41576-025-00895-2
  • GWASTutorial: Phasing.
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