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Application of a custom haplotype caller to analyze sequence-based data of 56 microhaplotypes

Authors
 Ye-Lim Kwon  ;  Eun Young Lee  ;  Bo Min Kim  ;  Su Min Joo  ;  Kyu Sik Jeong  ;  Byung Won Chun  ;  Yang Han Lee  ;  Ki Won Park  ;  Kyoung-Jin Shin 
Citation
 FORENSIC SCIENCE INTERNATIONAL-GENETICS, Vol.61 : 102778, 2022-11 
Journal Title
FORENSIC SCIENCE INTERNATIONAL-GENETICS
ISSN
 1872-4973 
Issue Date
2022-11
MeSH
DNA Fingerprinting* ; Haplotypes ; High-Throughput Nucleotide Sequencing* ; Humans ; Microsatellite Repeats ; Polymorphism, Single Nucleotide ; Sequence Analysis, DNA
Keywords
Human identification ; Massively parallel sequencing ; Microhaplotype ; STRUCTURE analysis ; Visual Microhap
Abstract
Microhaplotypes (microhaps) are recently introduced markers that aim to complement the limitations of conventional forensic markers such as short tandem repeats (STRs) and single nucleotide polymorphisms (SNPs). With the potential of microhaps in forensics becoming clearer through massively parallel sequencing (MPS), MPS-based studies on microhaps are being actively reported. However, simpler workflow schemes for the generation and analysis of MPS data are still required to facilitate the practical application of MPS in forensics. In this study, we developed an in-house MPS panel that simultaneously amplifies 56 microhaps and a custom haplotype caller, Visual Microhap. The developed tool works on a web browser and provides four analysis options to extract SNP-based haplotypes from sequence-based data obtained by STRait Razor 3.0. To demonstrate the utility of the MPS panel and data analysis workflow scheme, we also analyzed 56 microhaps of 286 samples from four populations (African-American, Caucasian, Hispanic, and Korean). The average effective number of alleles (Ae) for the four groups was 3.45, ranging from 1.74 to 6.98. Forensic statistical parameters showed that this microhap panel is more powerful than conventional autosomal STRs for human identification. Meanwhile, the 56-plex panel mostly comprised microhaps with high Ae; however, the four populations were grossly distinguishable from each other by cluster analysis. Consequently, the developed in-house MPS panel for 56 microhaps and the adopted workflow using open-source tools can increase the utility of microhap MPS in forensic research and practice.
Full Text
https://www.sciencedirect.com/science/article/pii/S1872497322001193?via%3Dihub
DOI
10.1016/j.fsigen.2022.102778
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Forensic Medicine (법의학과) > 1. Journal Papers
Yonsei Authors
Shin, Kyoung Jin(신경진) ORCID logo https://orcid.org/0000-0002-1059-9665
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/192283
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