加强法医基因组测序质量控制和样本完整性的分子框架。

IF 3.2 2区 医学 Q2 GENETICS & HEREDITY Forensic Science International-Genetics Pub Date : 2024-11-19 DOI:10.1016/j.fsigen.2024.103179
Steven A. Bates , Bruce Budowle , Lee Baker , Kristen Mittelman , David Mittelman
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引用次数: 0

摘要

DNA 分型对于识别犯罪现场证据和失踪及未知人员至关重要。历史上,分子标记曾被纳入 DNA 分型反应,以改进结果解读。条形码和唯一标识符等分子标签是 MPS 不可或缺的组成部分,有助于样本追踪和错误检测。然而,这些标记不能充分利用序列变异来加强质量控制。为了满足这一需求,我们引入了分子蚀刻技术,即作为内部分子信息管理系统的合成寡核苷酸。分子蚀刻可编码详细的样本信息,从而改善样本工作流程历史、跟踪、污染检测和真实性验证。验证研究证明了分子蚀刻在基因组测序中的稳健性,使其成为法医 DNA 分析的重要质量工具。
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A molecular framework for enhancing quality control and sample integrity in forensic genome sequencing
DNA typing is essential for identifying crime scene evidence and missing and unknown persons. Molecular tags historically have been incorporated into DNA typing reactions to improve result interpretation. Molecular tags like barcodes and unique identifiers are integral to MPS, aiding in sample tracking and error detection. However, these tags do not fully leverage sequence variation to enhance quality control. To address this need, molecular etches, which are synthetic oligonucleotides that serve as an internal molecular information management system, are introduced. Molecular etches encode detailed sample information improving sample workflow history, tracking, contamination detection, and authenticity verification. Validation studies demonstrate the robustness of molecular etches in genomic sequencing, making them a valuable quality tool for forensic DNA analysis.
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来源期刊
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.
期刊最新文献
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