Publications by authors named "Ye-Lim Kwon"
Unique molecular identifier-based amplicon sequencing of microhaplotypes for background noise mitigation.
Forensic Sci Int Genet
September 2024
Microhaplotypes (MHs), comprising two or more single-nucleotide polymorphisms in a short fragment, are promising forensic markers owing to their remarkable polymorphic nature. Several studies have demonstrated the utility of MHs through massively parallel sequencing (MPS). Nevertheless, the background noise level associated with MHs in MPS, which imposes a practical detection limit for the system, remains uninvestigated.
View Article and Find Full Text PDFSingle nucleotide polymorphisms (SNPs) have become popular in forensic genetics as an alternative to short tandem repeats (STRs). The Precision ID Identity Panel (Thermo Fisher Scientific), consisting of 90 autosomal SNPs and 34 Y-chromosomal SNPs, enabled human identification studies on global populations through next-generation sequencing (NGS). However, most previous studies on the panel have used the Ion Torrent platform, and there are few reports on the Southeast Asian population.
View Article and Find Full Text PDFApplication of a custom haplotype caller to analyze sequence-based data of 56 microhaplotypes.
Forensic Sci Int Genet
November 2022
Article Synopsis
- Microhaplotypes (microhaps) are new genetic markers designed to enhance forensic identification, addressing the limitations of traditional methods like STRs and SNPs.
- This study introduced a custom MPS panel that can simultaneously amplify 56 microhaps and includes a web-based tool called Visual Microhap for streamlined data analysis.
- Analysis of these microhaps across 286 samples from diverse populations showed their effectiveness in human identification, revealing distinct group differences and suggesting improved forensic application compared to standard STRs.
Article Synopsis
- The study explores the use of massively parallel sequencing (MPS) in forensic investigations, shifting from traditional capillary electrophoresis (CE) methods to sequence-based large-scale multiplexing.
- Researchers analyzed 25 autosomal short tandem repeats (STRs), including the problematic SE33 marker, using a custom MPS panel on 350 samples from diverse populations.
- The results showed a high genotype concordance of 99.88% between MPS and CE, with MPS revealing significantly more alleles, especially identifying 129 unique alleles in the SE33 marker that were previously undetected.
DNA analysis of degraded samples and low-copy number DNA derived from skeletal remains, one of the most challenging forensic tasks, is common in disaster victim identification and genetic analysis of historical materials. Massively parallel sequencing (MPS) is a useful technique for STR analysis that enables the sequencing of smaller amplicons compared with conventional capillary electrophoresis (CE), which is valuable for the analysis of degraded DNA. In this study, 92 samples of human skeletal remains (70+ years postmortem) were tested using an in-house MPS-STR system designed for the analysis of degraded DNA.
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