Forensic Application of Snp-Targeted Next-Generation Sequencing on Korean Kinship Analysis

Abstract

Short tandem repeat (STR) and single nucleotide polymorphism (SNP) analyses are crucial in forensic science for identifying missing persons and solving incest crimes. However, STR has several limitations in kinship identification, including the necessity of a trio-set (parents and offspring), inapplicability to distinguish distant kinship, and a higher mutation rate. SNP analysis, which has a lower mutation rate and inherent specificity, is developed to support STR. Consequently, a targeted SNP panel is required for validating the compatibility of distinguishing relatedness of degree and identifying significant kinship coefficient. We elucidated the distinguishing capability of kinship coefficient in the International Commission on Missing Persons (ICMP) Massively Parallel Sequencing-SNP panel using comparative validation with the SNP analysis of whole-genome sequencing (WGS). The average kinship coefficients in the ICMP panel and WGS were 0.2487±0.0232 and 0.2466 ±0.0186 for 1st degree, and 0.1324±0.0136 and 0.1316 ±0.0182 for 2nd degree, respectively. The calculated kinship coefficient of the ICMP panel coincided with that of WGS using heatmap. In this study, the distinguishable capability in relatedness the 1st and 2nd degree of the ICMP panel containing 1457 SNP markers was compared to the WGS consisting of 12 million SNPs. It is concluded that the ICMP panel is more capable of kinship analysis than WGS. It is recommended that an SNP panel that can effectively identify distant kinship, including 3rd and 4th degree should be developed through the expansion of SNP markers.

Keywords: Kinship coefficient, Single nucleotide polymorphism (SNP), Whole genome sequencing (WGS), International Commission on Missing Persons (ICMP)