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Haplotype Reference Consortium (HRC)

Definition
AI-generated

The Haplotype Reference Consortium (HRC) produced a large panel of phased whole-genome haplotypes from multiple studies, designed as a dense reference for genotype imputation of array and low-depth data before even larger sequencing-based panels became widespread.

Topics
Cohorts and databases
Related
1000 Genomes Project Genotype Imputation Haplotype

Why it matters in GWAS

HRC was a standard imputation reference for European-leaning GWAS meta-analyses; understanding its role helps interpret older publications and compare them with modern TOPMed- or study-specific–panel workflows.

Example usage

"We imputed to HRC release 1.1 and filtered to variants with INFO > 0.8 for association testing."

1000 Genomes Project Genotype Imputation Haplotype Imputation Reference Panel Trans-Omics for Precision Medicine (TOPMed) Whole-Genome Sequencing (WGS)
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

  • McCarthy S, et al. (2016). A reference panel of 64,976 haplotypes for genotype imputation. 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
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