A comparison of likelihood ratios calculated from surface DNA mixtures using MPS and CE Technologies

IF 3.2 2区医学 Q2 GENETICS & HEREDITY Forensic Science International-Genetics Pub Date : 2024-07-31 DOI:10.1016/j.fsigen.2024.103111

Maria Martin Agudo , Chiara Fantinato , Arne Roseth , Håvard Aanes , Peter Gill , Ane Elida Fonneløp , Øyvind Bleka

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Abstract

This study evaluates the performance of analysing surface DNA samples using massively parallel sequencing (MPS) compared to traditional capillary electrophoresis (CE). A total of 30 samples were collected from various surfaces in an office environment and were analysed with CE and MPS. These were compared against 60 reference samples (office inhabitants). To identify contributors, likelihood ratios (LRs) were calculated for MPS and CE data using the probabilistic genotyping software MPSproto and EuroForMix respectively. Although a higher number of sequences/peaks were observed per DNA profile in MPS compared to CE, LR values were found to be lower for MPS data formats. This might be the result of the increased complexity of MPS data, along with a possible elevation of unknown alleles and/or artefacts. The study highlights avenues for improving MPS data quality and analysis to facilitate more robust interpretation of challenging casework-like samples.

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使用 MPS 和 CE 技术计算表面 DNA 混合物的似然比比较。

与传统的毛细管电泳（CE）相比，本研究评估了使用大规模平行测序（MPS）分析表面 DNA 样品的性能。研究人员从办公室环境的各种表面共采集了 30 份样本，并使用 CE 和 MPS 进行了分析。这些样本与 60 份参考样本（办公室居民）进行了比较。为了确定贡献者，使用概率基因分型软件 MPSproto 和 EuroForMix 分别计算了 MPS 和 CE 数据的似然比 (LR)。虽然在 MPS 中每个 DNA 图谱中观察到的序列/峰值数量高于 CE，但发现 MPS 数据格式的 LR 值较低。这可能是由于 MPS 数据的复杂性增加，以及未知等位基因和/或伪影可能增加的结果。这项研究强调了改进 MPS 数据质量和分析的途径，以促进对具有挑战性的病例样本进行更可靠的解释。

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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.