Application and potential value of genotype imputation techniques in ancient DNA research
Received date: 2025-07-18
Revised date: 2025-10-13
Online published: 2025-11-13
Supported by
National Social Science Foundation of China(17ZDA221);Interdisciplinary Research Support Program for Doctoral Candidates of the Interdisciplinary Innovation Center, Jilin University(4190214243B6)
Ancient DNA research plays a pivotal role in reconstructing history and understanding biological evolution. Modern genotype imputation techniques, which leverage reference panels to predict missing genotypes, have emerged as powerful tools for enhancing genetic information retrieval from ancient DNA. In this review, we examine state-of-the-art computational tools and algorithms—including GLIMPSE, Beagle, and QUILT—that enable more comprehensive analysis of genetic architecture and evolutionary patterns in ancient humans and animals. While analytical accuracy can be affected by variables such as sampling strategies and reference panel composition, the field shows tremendous potential for growth. Key future directions include: (1) algorithmic refinements, (2) computational efficiency improvements, (3) integration with emerging technologies, and (4) expansion into novel research domains. These advances are expected to offer new perspectives for advancing ancient DNA research and understanding ancient life systems.
Key words： ancient DNA; genotype imputation; genetic information recovery
Wenqi Wei, Dawei Cai . Application and potential value of genotype imputation techniques in ancient DNA research[J]. Hereditas(Beijing), 2026 , 48(5) : 471 -482 . DOI: 10.16288/j.yczz.25-166
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