• Title/Summary/Keyword: targeted amplicon NGS

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Development of targeted amplicon next-generation sequencing panel of 50 SNPs related to externally visible characteristics and behavior (외형 및 행동 습관 관련 50개 SNP 마커 분석을 위한 targeted amplicon next-generation sequencing 패널 개발)

  • Hee-Yeon Park;Yoonji Noh;Eung-Soo Kim;Hyun-Chul Park
    • Analytical Science and Technology
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    • v.37 no.3
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    • pp.189-199
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    • 2024
  • In forensic genetics, when it is not possible to confirm an individual's identity through STR profile analysis, additional information about the individual can be obtained using DNA-based phenotypic traits estimation. Recently, various researches have been conducted on methods to determine externally visible characteristics (EVC) such as eyes, hair, and skin color. However, relying solely on such phenotypic traits information has limitations for application in East Asian regions, including Korea. In this study, in order to utilize EVC related to an individual's appearance as investigative information, SNPs related to eye shape, hair thickness, skin color, as well as baldness, body type, high myopia, facial shape, acne, and behavioral habits were explored. A total of 50 SNPs were selected, and a targeted amplicon NGS panel capable of amplifying them all at once was developed. Experimental results confirmed the allelic types and frequencies of the 50 SNPs in 14 samples. We plan to use this panel to investigate the correlation between genotype and phenotype using various samples, and to develop methods for interpreting the results.