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Abstract Massively parallel sequencing (MPS) has rapidly emerged as a promising technique for forensic DNA typing due to its capacity to simultaneously detect numerous genetic markers and samples in a single reaction, allowing the direct acquisition of sequence information. In this current investigation, the FGID Forensic Four-in-One DNA Typing Kit was employed on the DNBSEQ-G99RS high-throughput sequencing platform to simultaneously analyze two types of forensic genetic markers—short tandem repeat (STR) and single nucleotide polymorphism (SNP). A total of 306 DNA markers, comprising Amelogenin, 66 autosomal STR (A-STR) loci, 29 X chromosomal STR (X-STR) loci, 75 Y chromosomal STR (Y-STR) loci, and 135 SNP (132 A-SNP and 3 Y-SNP) loci, were genotyped for 100 unrelated individual samples (50 males and 50 females). As a result, sequence-based STR typing identified 940 alleles on A-STRs, 378 alleles on X-STRs, and 519 alleles on Y-STRs. In comparison to length-based alleles, the number of unique alleles based on sequence increased by 58.18%. Additionally, 97 new sequence variations were observed at 29 STR loci, and MPS sequence information was obtained for the first time at 42 STR loci. Furthermore, when utilizing sequence-based data, forensic parameters exhibited a notable increase in combined power of discrimination (CPD) and combined power of exclusion (CPE) for A-STR, a slight increase in CPD and combined mean exclusion chance (MEC) for X-STR, and a marginal increase in discrimination capacity (DC) for Y-STR. Moreover, information data for 132 A-SNPs were acquired. As anticipated, our findings highlight the advantages of MPS in forensic genetic applications while contributing novel genetic data for Asian populations in forensic practice.
Zhen et al. (Wed,) studied this question.