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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.


Selected Recent Publications:

18. Kim EH, Lee HY, Kwon SY, Lee EY, Yang WI, Shin KJ. Sequence-based diversity of 23 autosomal STR loci in Koreans investigated using an in-house massively parallel sequencing panel. Forensic Sci Int Genet. 2017;30:134-140.
17. Hong SR, Jung SE, Lee EH, Shin KJ, Yang WI, Lee HY. DNA methylation-based age prediction from saliva: High age predictability by combination of 7 CpG markers. Forensic Sci Int Genet. 2017;29:118-125.
16. Lee EY, Lee HY, Kwon SY, Oh YN, Yang WI, Shin KJ. A multiplex PCR system for 13 RM Y-STRs with separate amplification of two different repeat motif structures in DYF403S1a. Forensic Sci Int Genet. 2017;26:85-90.
15. Jung SE, Cho S, Antunes J, Gomes I, Uchimoto ML, Oh YN, Di Giacomo L, Schneider PM, Park MS, van der Meer D, Williams G, McCord B, Ahn HJ, Choi DH, Lee YH, Lee SD, Lee HY. A collaborative exercise on DNA methylation-based body fluid typing. Electrophoresis. 2016;21:2759-2766.
14. Kwon SY, Lee HY, Kim EH, Lee EY, Shin KJ. Investigation into the sequence structure of 23 Y chromosomal STR loci using massively parallel sequencing. Forensic Sci Int Genet. 2016;25:132-141.
13. Lee EY, Lee HY, Shin KJ. Off-ladder alleles due to a single nucleotide polymorphism in the flanking region at DYS481 detected by the PowerPlex˘ç Y23 System. Forensic Sci Int Genet. 2016;24:e7-e8.
12. Lee HY, Jung SE, Lee EH, Yang WI, Shin KJ. DNA methylation profiling for a confirmatory test for blood, saliva, semen, vaginal fluid and menstrual blood. Forensic Sci Int Genet. 2016;24:75-82.
11. Lee HY, Lee SD, Shin KJ. Forensic DNA methylation profiling from evidence material for investigative leads. BMB Rep. 2016;49(7):359-369.
10. Lee EY, Lee HY, Oh SY, Jung SE, Yang IS, Lee YH, Yang WI, Shin KJ. Massively parallel sequencing of the entire control region and targeted coding region SNPs of degraded mtDNA using a simplified library preparation method. Forensic Sci Int Genet. 2016;22:37-43.
9. Kim EH, Lee HY, Yang IS, Jung SE, Yang WI, Shin KJ. Massively parallel sequencing of 17 commonly used forensic autosomal STRs and amelogenin with small amplicons. Forensic Sci Int Genet. 2016;22:1-7.
8. Kwon SY, Lee HY, Lee EY, Yang WI, Shin KJ. Confirmation of Y haplogroup tree topologies with newly suggested Y-SNPs for the C2, O2b and O3a subhaplogroups. Forensic Sci Int Genet. 2015;19:42-46.
7. Lee HY, Jung SE, Oh YN, Choi A, Yang WI, Shin KJ. Epigenetic age signatures in the forensically relevant body fluid of semen: a preliminary study. Forensic Sci Int Genet. 2015;19:28-34.
6. Lee HY, An JH, Jung SE, Oh YN, Lee EY, Choi A, Yang WI, Shin KJ. Genome-wide methylation profiling and a multiplex construction for the identification of body fluids using epigenetic markers. Forensic Sci Int Genet. 2015;17:17-24.
5. Oh YN, Lee HY, Lee EY, Kim EH, Yang WI, Shin KJ. Haplotype and mutation analysis for newly suggested Y-STRs in Korean father-son pairs. Forensic Sci Int Genet. 2015;15:64-68.
4. Lee EY, Shin KJ, Rakha A, Sim JE, Park MJ, Kim NY, Yang WI, Lee HY. Analysis of 22 Y chromosomal STR haplotypes and Y haplogroup distribution in Pathans of Pakistan. Forensic Sci Int Genet. 2014;11:111-116.
3. Kim EH, Jung SE, Shin KJ, Yang WI, Yang IS. Sequence generation and genotyping of 15 autosomal STR markers using next generation sequencing. Korean J Leg Med. 2014;38(2):48-58.
2. Kim EH, Lee HY, Yang IS, Yang WI, Shin KJ. Population data for 30 insertion-deletion markers in a Korean population. Int J Legal Med. 2014;128(1):51-52.
1. Choi A, Shin KJ, Yang WI, Lee HY. Body fluid identification by integrated analysis of DNA methylation and body fluid-specific microbial DNA. Int J Legal Med. 2014;128(1):33-41.