# Chimeric reference panels for genomic imputation

**Authors:** Meikun Zhou, Maddie E James, Jan Engelstädter, Daniel Ortiz-Barrientos

PMC · DOI: 10.1093/genetics/iyaf212 · Genetics · 2025-10-01

## TL;DR

The paper introduces a new method called Retriever that allows genomic imputation without needing expensive external reference panels, making genomic research more accessible for various species.

## Contribution

Retriever is a novel method that constructs chimeric reference panels directly from target samples, eliminating the need for costly external panels.

## Key findings

- Retriever achieves over 95% imputation accuracy across diverse species like plants, animals, and fungi.
- The method preserves local linkage disequilibrium patterns and captures novel genomic variants.
- Retriever's approach is cost-effective and accessible for nonmodel organisms.

## Abstract

Despite transformative advances in genomic technologies, missing data remain a fundamental constraint that limits the full potential of genomic research across biological systems. Genotype imputation offers a remedy by inferring unobserved genotypes from observed data. However, conventional imputation methods typically rely on external reference panels constructed from complete genome sequences of hundreds of individuals, a costly approach largely inaccessible for nonmodel organisms. Moreover, these methods generally overlook novel genomic positions not captured in existing panels. To overcome these limitations, we developed Retriever, a method for constructing a chimeric reference panel that enables genotype imputation without the need for an external reference panel. Retriever constructs a chimeric reference panel directly from the target samples using a sliding window approach to identify and retrieve genomic partitions with complete data. By exploiting the complementary distribution of missing data across samples, Retriever assembles a panel that preserves local patterns of linkage disequilibrium and captures novel variants. When the Retriever-constructed panels are used with Beagle for genotype imputation, Retriever consistently achieves accuracy exceeding 95% across diverse datasets, including plants, animals, and fungi. By eliminating the need for costly external panels, Retriever provides an accessible and cost-effective solution that broadens the application of genomic analyses across various species.

## Linked entities

- **Species:** Fungi (taxon 4751)

## Full-text entities

- **Species:** Solanum tuberosum (potatoes, species) [taxon 4113], Homo sapiens (human, species) [taxon 9606], Saccharomyces cerevisiae (baker's yeast, species) [taxon 4932], Gallus gallus (bantam, species) [taxon 9031], Helianthus annuus (common sunflower, species) [taxon 4232], Arabidopsis thaliana (mouse-ear cress, species) [taxon 3702]

## Full text

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## Figures

8 figures with captions in the complete paper: https://tomesphere.com/paper/PMC12774824/full.md

## References

74 references — full list in the complete paper: https://tomesphere.com/paper/PMC12774824/full.md

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Source: https://tomesphere.com/paper/PMC12774824