Comparison of next generation sequencing (NGS) - (SNPs) and capillary electrophoresis (CE) - (STRs) in the genetic analysis of human remains

IF 3.2 2区医学 Q2 GENETICS & HEREDITY

Forensic Science International-Genetics Pub Date : 2024-08-30 DOI:10.1016/j.fsigen.2024.103131

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引用次数: 0

Abstract

A pilot study was performed using two different DNA technology platforms conducted by two laboratories to analyze DNA extracted from 83-year-old, human male skeletal remains from 16 individuals, of which there are no other viable means to identify these war victims. The workflow of the more recent developed ForenSeq Kintelligence Kit and next generation sequencing was compared to that of the standard capillary electrophoresis – short tandem repeat (STR) method (Power Plex ESX17 and Y23 Systems). The findings indicate that greater amount of useful genetic data can be gained with the Kintelligence system across the range of samples under study and particularly for samples in which partial or no STR profiles are obtained. SNP data are more likely to be obtained from degraded samples, like the ones analyzed in this study. Moreover, high volume SNP data are suitable for long distance kinship associations and genetic genealogy databases to develop more investigative leads for future kinship and missing persons cases, a process not feasible by STR typing.

查看原文本刊更多论文

下一代测序（NGS）--（SNPs）与毛细管电泳（CE）--（STRs）在人类遗骸基因分析中的比较。

两个实验室使用两种不同的 DNA 技术平台进行了一项试点研究，分析从 16 具 83 岁男性遗骸中提取的 DNA。最新开发的 ForenSeq Kintelligence Kit 和新一代测序的工作流程与标准毛细管电泳--短串联重复（STR）方法（Power Plex ESX17 和 Y23 系统）的工作流程进行了比较。研究结果表明，使用 Kintelligence 系统可以获得更多有用的基因数据，适用于各种研究样本，特别是获得部分或没有 STR 图谱的样本。SNP 数据更有可能从退化样本中获得，比如本研究分析的样本。此外，大量的 SNP 数据适用于远距离亲属关系关联和遗传家谱数据库，为今后的亲属关系和失踪人员案件开发更多的调查线索，而这一过程是 STR 分型所无法实现的。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Forensic Science International-Genetics 生物-医学：法

CiteScore

7.50

自引率

32.30%

发文量

132

审稿时长

11.3 weeks

期刊介绍： Forensic Science International: Genetics is the premier journal in the field of Forensic Genetics. This branch of Forensic Science can be defined as the application of genetics to human and non-human material (in the sense of a science with the purpose of studying inherited characteristics for the analysis of inter- and intra-specific variations in populations) for the resolution of legal conflicts. The scope of the journal includes: Forensic applications of human polymorphism. Testing of paternity and other family relationships, immigration cases, typing of biological stains and tissues from criminal casework, identification of human remains by DNA testing methodologies. Description of human polymorphisms of forensic interest, with special interest in DNA polymorphisms. Autosomal DNA polymorphisms, mini- and microsatellites (or short tandem repeats, STRs), single nucleotide polymorphisms (SNPs), X and Y chromosome polymorphisms, mtDNA polymorphisms, and any other type of DNA variation with potential forensic applications. Non-human DNA polymorphisms for crime scene investigation. Population genetics of human polymorphisms of forensic interest. Population data, especially from DNA polymorphisms of interest for the solution of forensic problems. DNA typing methodologies and strategies. Biostatistical methods in forensic genetics. Evaluation of DNA evidence in forensic problems (such as paternity or immigration cases, criminal casework, identification), classical and new statistical approaches. Standards in forensic genetics. Recommendations of regulatory bodies concerning methods, markers, interpretation or strategies or proposals for procedural or technical standards. Quality control. Quality control and quality assurance strategies, proficiency testing for DNA typing methodologies. Criminal DNA databases. Technical, legal and statistical issues. General ethical and legal issues related to forensic genetics.