ISSN Print 2500–1094
ISSN Online 2542–1204
BIOMEDICAL JOURNAL OF PIROGOV UNIVERSITY (MOSCOW, RUSSIA)
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).
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
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
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Fig. 1. Genotype imputation accuracy (R²) depending on the coverage depth and minor allele frequency (MAF) for two test samples. The horizontal axis shows the minor allele frequency (%), the vertical axis shows the R² coefficient between imputed and reference allele dosages. Each curve corresponds to one of five coverage levels (0.1×; 0.3×; 0.5×; 0.7×; 0.9×). А. M00016 sample of Indian origin. B. CRR1023808 sample of Chinese origin
Fig. 2. M. mulatta reference haplotype panel principal component analysis (n = 618). Blue indicates samples of Indian origin (n = 418), red indicates samples of Chinese origin (n = 200)
