关于用于 DNA 图谱解读的马尔可夫链蒙特卡洛算法精确性的合作研究

IF 3.2 2区 医学 Q2 GENETICS & HEREDITY Forensic Science International-Genetics Pub Date : 2024-06-19 DOI:10.1016/j.fsigen.2024.103088
Sarah Riman , Jo-Anne Bright , Kaitlin Huffman , Lilliana I. Moreno , Sicen Liu , Asmitha Sathya , Peter M. Vallone
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引用次数: 0

摘要

一些完全连续的概率基因分型软件(PGS)使用马尔可夫链蒙特卡洛算法(MCMC)为基因座上不同的拟议基因型组合分配权重。由于蒙特卡洛算法的原因,在这些软件中对同一图谱的重复解释预计不会产生相同的权重和似然比(LR)值。本文报告了国家标准与技术研究院(NIST)、联邦调查局(FBI)和环境科学研究院(ESR)合作开展的可重复性条件下的详细精度研究。三个实验室生成的重复解释使用相同的输入文件、软件版本和设置,但随机数种子和计算机不同。这项工作表明,使用不同的计算机分析重复解释不会导致 LR 值的任何变化。该研究量化了仅由运行到运行的 MCMC 变异造成的分配 LRs 差异的大小,并探讨了观察到的差异的潜在解释。
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A collaborative study on the precision of the Markov chain Monte Carlo algorithms used for DNA profile interpretation

Several fully continuous probabilistic genotyping software (PGS) use Markov chain Monte Carlo algorithms (MCMC) to assign weights to different proposed genotype combinations at a locus. Replicate interpretations of the same profile in these software are expected not to produce identical weights and likelihood ratio (LR) values due to the Monte Carlo aspect. This paper reports a detailed precision study under reproducibility conditions conducted as a collaborative exercise across the National Institute of Standards and Technology (NIST), Federal Bureau of Investigation (FBI), and Institute of Environmental Science and Research (ESR). Replicate interpretations generated across the three laboratories used the same input files, software version, and settings but different random number seed and different computers. This work demonstrates that using different computers to analyze replicate interpretations does not contribute to any variations in LR values. The study quantifies the magnitude of differences in the assigned LRs that is only due to run-to-run MCMC variability and addresses the potential explanations for the observed differences.

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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.
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