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Research endeavors in Yonsei DNA Profiling Group cover a wide range of forensic and human genetics including population studies of DNA polymorphisms, DNA typing methodologies and strategies, DNA databases and data quality control, and evolutionary demographics.

Rapidly increasing amounts of data from a variety of sources requires the ability to evaluate and integrate this information in order to make meaningful research. As we are interested in the application of mitochondrial DNA to kinship analysis and evolutionary genetics, a forensic mitochondrial DNA database, mtDNAmanager (http://mtmanager.yonsei.ac.kr) was recently developed by our group. It is a web-based bioinformatics resource aimed at supporting mitochondrial DNA data quality control and generating reliable frequency estimates from various population groups. This application provides an easily accessible web interface for researchers to determine if a mitochondrial DNA sequence is reliable for further analysis, and thus should be very useful for population, medical, and forensic studies that employ mitochondrial DNA analysis. In addition, we are now working together with the MAKRI (Ministry of Naional Defense Agency for Killed In Action Recovery and Identification) in order to identify the missing casualties of the Korean War (1950-1953). To facilitate obtaining DNA profiles from highly degraded samples such as old skeletal remains, we have also developed a modified mini-primer set for the mitochondrial DNA control region sequence analysis and several mini-STR systems for autosomal- and Y-chromosomal STR analyses.

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Selected Recent Publications:

1. Kwon YL, Shin KJ. Unique molecular identifier-based amplicon sequencing of microhaplotypes for background noise mitigation. Forensic Sci Int Genet. 2024;72:103096.
2. Joo SM, Kwon YL, Moon MH, Shin KJ. Genetic investigation of 124 SNPs in a Myanmar population using the Precision ID Identity Panel and the Illumina MiSeq. Leg Med (Tokyo). 2023;63:102256.
3. Hong SR, Shin KJ. Can we integrate method-specific age-predictive models?: Analysis method-induced differences in detected DNA methylation status. Forensic Sci Int Genet. 2023;62:102805.
4. Kwon YL, Lee EY, Kim BM, Joo SM, Jeong KS, Chun BW, Lee YH, Park KW, Shin KJ. Application of a custom haplotype caller to analyze sequence-based data of 56 microhaplotypes. Forensic Sci Int Genet. 2022;61:102778.
5. Moon MH, Hong SR, Shin KJ. Sequence variations of 31 Y-chromosomal short tandem repeats analyzed by massively parallel sequencing in three U.S. population groups and Korean population. Korean Med Sci. 2022;37(6):e40.
6. Hong SR, Shin KJ. Bisulfite-converted DNA quantity evaluation: A multiplex quantitative real-time PCR system for evaluation of bisulfite conversion. Front Genet. 2021;12:618955.
7. Kwon YL, Kim BM, Lee EY, Shin KJ. Massively parallel sequencing of 25 autosomal STRs including SE33 in four population groups for forensic applications. Sci Rep. 2021;11(1):4701.