SMART：STR 混合物分析和解析工具。

IF 3.2 2区医学 Q2 GENETICS & HEREDITY

Forensic Science International-Genetics Pub Date : 2024-10-05 DOI:10.1016/j.fsigen.2024.103148

Xianchao Ji , Lianjiang Chi , Lan Wu , Jianchao Chen , Anxin Yan , Yongjiu Li , Zheng Tu , Jian Ye , Hua Chen

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引用次数: 0

摘要

对来自混合 DNA 样本的 STR 混合图谱进行分析在刑事调查和法律诉讼中起着至关重要的作用。在本文中，我们介绍了在完全连续模型框架内开发的用于分析 STR 混合图谱的新型软件 SMART。SMART 融合了峰高模型、口吃模型、丢入/丢出模型和群体遗传学模型，具有多种功能，如计算似然比 (LR)、解析个体贡献者的基因型以及使用混合 DNA 图谱直接进行数据库搜索。根据 SWGDAM 指南，使用实验室生成的样本和 PROVEDIt 数据集对 SMART 的性能进行了评估。结果表明，SMART 实现了高灵敏度、高特异性和高精确度。此外，该软件计算效率高，可在台式电脑上进行快速分析。总之，我们预计 SMART 将成为法医调查的宝贵工具，提高刑事司法结果的准确性和可靠性。

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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SMART: STR Mixture Analysis and Resolution Tools

The analysis of STR mixture profiles derived from mixed DNA samples plays a critical role in criminal investigations and legal proceedings. In this article, we present SMART, a novel software developed within the fully continuous model framework to analyze STR mixture profiles. SMART incorporates the peak height model, stutter model, drop-in/drop-out model, and population genetics model, offering various functionalities such as calculating likelihood ratios (LR), resolving genotypes of individual contributors, and performing direct database searches using mixed DNA profiles. The performance of SMART was evaluated using laboratory-generated samples and the PROVEDIt dataset following the SWGDAM guidelines. The results demonstrate that SMART achieves high sensitivity, specificity, and precision. Furthermore, the software is computationally efficient, allowing for quick analysis on a desktop computer. Overall, we anticipate that SMART will serve as an invaluable tool for forensic investigations, enhancing the accuracy and reliability of criminal justice outcomes.

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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.