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JGG | Center for Archaeological Science, Sichuan University - Yuan Huijun, He Guanglin, Wang Mengge, et al. Review of the Latest Advances in Genetic Genealogy in the Reconstruction of Ancient Human Social Structures and Criminal Intelligence打击 Research

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In recent years, with the development of DNA sequencing technology, the advancement of computational methods, and the establishment of genomic databases (Figure 1), forensic investigative genetic genealogy (FIGG) analysis has gradually matured. FIGG combines modern molecular biology techniques with traditional genealogy methods to provide important clues for identifying unknown individuals in major and difficult cases (Figure 2). The DNA Doe Project (DDP) used FIGG to identify the victim of the "Buckskin Girl" murder case, and the notorious "Golden State Killer" case was also solved through FIGG. By analyzing shared alleles and haplotypes, innovations in genealogical technology have also provided new insights for reconstructing ancient population genealogies and resolving the social structure of ancient populations on a fine-grained scale.

Figure 1. Progress in large-scale population genome studies and the development of their ability to analyze genomic genetic variations

Figure 2. Research progress of genealogy technology and key technologies of forensic genealogy

On July 3, 2024, Journal of Genetics and Genomics published online a review paper titled 鈥淔orensic investigative genetic genealogy: expanding pedigree tracing and genetic inquiry in the genomic era鈥� co-authored by Academician Chao Liu's team from the Guangdong Provincial Drug Experiment Technology Center (Guangdong Branch of the National Drug Laboratory), Center for Archaeological Science, Sichuan University, Huijun Yuan/Guanglin He team from West China Institute of Rare Diseases, Sichuan University, and Renkuan Tang's team from Chongqing Medical University. This review systematically elaborated on the development history of genetic genealogy and forensic genetic genealogy, summarized the latest research results on the construction of related databases and algorithm development, discussed the role of new forensic genealogy technologies in intelligent positioning and identification of criminal suspects, precise family tracing and anti-trafficking, large-scale family reconstruction of ancient populations, and analysis of complex social structures (Figure 3), and emphasized the importance of ethics, law, and social impact in the research and development and application of new forensic genealogy technologies.

Figure 3. Genealogical tracing technology reconstructs complex kinship and social structures of ancient societies at different spatio-temporal scales

Figure 4. Typical cases solved by forensic genealogy technology

The review first systematically describes the development history of FIGG, introduces the application of important databases such as GEDmatch, FTDNA, DNASolves, and DNA Justice in forensic science, and the algorithmic innovations for determining genetic correlations and kinship probabilities. Among them, the integrated analysis of molecular genetic markers such as Y chromosome and mitochondrial DNA has accelerated the development of this field. Secondly, the review summarizes the specific applications of FIGG in forensic science, including identifying suspects through family search methods, and identifying unknown individuals using resources such as DDP (Figure 4). At the same time, it discusses how to use genetic and archaeological data to reconstruct the genealogical relationships of ancient populations and study ancient social organizations and human migration (Figure 3). In addition, the review discusses in depth the ethical, legal, social impacts, and industry standardization involved in the implementation of FIGG, such as informed consent, privacy protection, and data security, and how to establish legal and regulatory frameworks to balance public interests and individual privacy. Finally, the review looks forward to the future development of FIGG, including developing population-specific genomic resources, further optimizing algorithms to improve accuracy, and how to improve the ethical norms and standards of FIGG globally, aiming to provide a comprehensive reference framework for researchers and promote the sustainable development of FIGG in forensic science and related fields (Figure 5).

Figure 5. The workflow of forensic genetic genealogy.

The workflow for law enforcement agencies to implement FIGG includes the following key steps: first, STR/SNP analysis of crime scene samples and distant relative comparison with forensic databases, and finally, identity verification of crime scene samples with the STR/SNP data of the target individuals identified by FIGG.

Dr. Mengge Wang from West China Institute of Rare Diseases/Center for Archaeological Science, Sichuan University and undergraduate Hongyu Chen from Chongqing Medical University are the co-first authors of this review. Academician Chao Liu from Guangdong Provincial Drug Experiment Technology Center (Guangdong Branch of the National Drug Laboratory), Professor Renkuan Tang from the School of Basic Medical Sciences of Chongqing Medical University, and Professor Huijun Yuan and Associate Researcher Guanglin He from Center for Archaeological Science, Sichuan University/West China Institute of Rare Diseases, Sichuan University are the co-corresponding authors. Related work was supported by the National Natural Science Foundation of China, the Open Project of Center for Archaeological Science, Sichuan University, and other projects.