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1000 Genomes Project

Definition
AI-generated

The 1000 Genomes Project produced a public catalog of human genetic variation from diverse populations, including phased haplotypes and population allele frequencies, widely used as an imputation reference, allele-frequency panel, and ancestry benchmark before larger resources (e.g. TOPMed, gnomAD).

Topics
Cohorts and databases
Related
Ancestry Genotype Imputation Haplotype

Why it matters in GWAS

It remains a standard alignment and imputation backbone, supports PCA and allele harmonization, and illustrates continental and fine-scale population structure.

Example usage

"Quality-controlled 1000 Genomes Project data were used to prioritize robust loci and downstream functional follow-up."

Ancestry Genotype Imputation Haplotype Haplotype Reference Consortium (HRC) Imputation Reference Panel Principal Component Analysis (PCA) Single Nucleotide Polymorphism (SNP)
Related-term network

Click any node to open that term page.

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

  • 1000 Genomes Project Consortium. (2015). A global reference for human genetic variation. Nature.
  • 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: 1000 Genomes Project.
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