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Imputation Reference Panel

Definition
AI-generated

An imputation reference panel is a set of deeply genotyped or sequenced samples with phased haplotypes used to infer untyped variants in a target cohort.

Topics
GWAS
Related
1000 Genomes Project Ancestry Genotype Imputation

Why it matters in GWAS

Mismatch between study and reference ancestry reduces imputation quality and can bias allele frequencies and association tests; large diverse panels (e.g. TOPMed), population-matched add-ons, or cohort-specific references are common strategies discussed in imputation practice.

Example usage

"The methods include Imputation Reference Panel to support interpretation of the main results."

1000 Genomes Project Ancestry Genotype Imputation Haplotype Reference Consortium (HRC) Meta-Imputation Haplotype Phasing Trans-Omics for Precision Medicine (TOPMed) Trans-Ancestry GWAS
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
  • Das S, Abecasis GR, Browning BL. (2018). Genotype imputation from large reference panels. Annu Rev Genom Hum Genet.
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