Copyright: © 2026 by the authors. Licensee: Pirogov University.
This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution license (CC BY).

ORIGINAL RESEARCH

Integrated reference panel of Macaca mulatta haplotypes for genotype imputation in populations of mixed origin

Sharko FS , Prokopenko AV , Izotova AO , Toshchakov SV
About authors

National Research Centre "Kurchatov Institute", Moscow, Russia

Correspondence should be addressed: Stepan V. Toshchakov
Academician Kurchatov pl, 1, Moscow, 123098, Russia; moc.liamg@vokahchsot.napets

About paper

Funding: the study was supported by the Ministry of Science and Higher Education of the Russian Federation (Federal Scientific and Technical Program for the Development of Genetic Technologies for 2019–2030), agreement No. 075-15-2025-491 dated 30.05.2025.

Acknowledgements: the study was conducted using the equipment of the shared use center "Complex for Modeling and Processing Data from Mega-Class Research Facilities", National Research Centre "Kurchatov Institute", http://ckp.nrcki.ru/.

Author contribution: Toshchakov SV — research design, manuscript writing; Sharko FS — bioinformatics analysis, manuscript draft; Prokopenko AV, Izotova AO — manuscript editing.

Compliance with ethical standards: the studies were approved by the Ethics Committee of the National Research Centre "Kurchatov Institute" (protocol №2-2пр dated June 30, 2025).

Received: 2026-07-14 Accepted: 2026-08-14 Published online: 2026-08-21
|

Genotype imputation makes it possible to considerably reduce the cost of whole-genome data acquisition preserving the information value, but its accuracy depends directly on the availability of a high-quality phased reference panel of haplotypes. The existing panels for Macaca mulatta cover mostly the Indian species lineage and do not reflect the genetic structure of laboratory populations of mixed origin. This retrospective bioinformatics study aimed to produce and validate a phased reference panel based on the consolidation of publicly available whole-genome datasets from 618 M. mulatta individuals of both geographic lineages processed in accordance with the common standardized protocol. The resulting panel includes 33,457,491 SNP markers. Validation on samples of Indian and Chinese origin with ultra-low coverage (0.1x–0.9x) confirmed high imputation accuracy, which was highest for the Indian lineage dominant in the panel. Testing on 10 independent samples with the 0.6x coverage showed a high average imputation reliability score (INFO = 0.898). The created resource opens the prospects for cost-effective genotyping of large M. mulatta cohorts and provides the basis for whole-genome association and population genetic studies in domestic and foreign primate research centers.

Keywords: bioinformatics, whole-genome sequencing, genotype imputation, reference panel, Macaca mulatta, GLIMPSE2, SHAPEIT5

КОММЕНТАРИИ (0)