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Forensic genetic analysis of single-nucleotide polymorphisms and microhaplotypes in Koreans through next-generation sequencing using precision ID identity panel

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Abstract

Background

Forensic DNA analysis has seen remarkable advancements with the advent of Next Generation Sequencing (NGS). In particular, NGS analysis of single nucleotide polymorphisms (SNPs) offers significant advantages in the analysis of challenging samples compared to conventional STR analysis.

Objective

This study aimed to investigate the SNPs of the Precision ID Identity Panel, a commercially available NGS panel for personal identification, by generating genetic profiles of 298 Koreans and comparing them with other global populations.

Methods

A total of 124 SNPs, including 90 autosomal and 34 Y-SNPs, were analyzed using the Precision ID Identity Panel, and forensic parameters, microhaplotypes, and population differences were investigated.

Results

The NGS data were successfully obtained from 298 Koreans. The analysis of forensic parameters exhibited a low combined match probability of 1.532 × 10− 34, which is comparable to that obtained from commonly used STR analysis. Additionally, the microhaplotype analysis revealed that the use of 16 microhaplotypes provided higher discriminatory power compared to single target SNPs. Furthermore, the adoption of microhaplotype data resulted in an increase of over 20% in expected heterozygosity at five loci. Inter-population analysis showed a close genetic relationship between Koreans and individuals from China and Myanmar in East and Southeast Asia, which are geographically adjacent to Korea.

Conclusions

The results of this study show that the Precision ID Identity panel can be a useful alternative where traditional STR typing is not feasible. Also, the data from our study will be useful as a reference for Koreans in forensic investigations and the prosecution of criminal justice.

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All data and materials described in the manuscript are available.

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Acknowledgements

This work was supported by the grant from the National Research Foundation of Korea (NRF-2019R1A2C1086423). This study was conducted with bioresources from National Biobank of Korea, the Centers for Disease Control and Prevention, Republic of Korea (KBN-2020-009).

Funding

This work was supported by the grant from the National Research Foundation of Korea (NRF-2019R1A2C1086423).

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Authors and Affiliations

  1. Department of Forensic Medicine, Seoul National University College of Medicine, Seoul, Korea

    Soo-Bin Yang, Ji Eun Lee & Hwan Young Lee

  2. Institute of Forensic and Anthropological Science, Seoul National University College of Medicine, Seoul, Korea

    Hwan Young Lee

Authors
  1. Soo-Bin Yang
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  2. Ji Eun Lee
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Contributions

Soo-Bin Yang: conceptualization, methodology, validation, investigation, visualization and writing of original draft; Ji Eun Lee: methodology, partial investigation and resources; Hwan Young Lee: conceptualization, project administration, supervision, reviewing and editing, and funding acquisition. All authors have read and agreed to the published version of the manuscript.

Corresponding author

Correspondence to Hwan Young Lee.

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Ethics approval

This study had been approved by the Seoul National University Hospital IRB (No. 1912-053-1087). All human samples used in the experiments were conducted in compliance with the guidelines approved by the Committee of Seoul National University Hospital.

Conflict of interest

All authors declare no conflicts of interest.

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Yang, SB., Lee, J.E. & Lee, H.Y. Forensic genetic analysis of single-nucleotide polymorphisms and microhaplotypes in Koreans through next-generation sequencing using precision ID identity panel. Genes Genom 45, 1281–1293 (2023). https://doi.org/10.1007/s13258-023-01424-3

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