Joint match probabilities for Y chromosomal and autosomal markers

Empirical tests of association between Y chromosome and autosomal markers are presented and a theoretical framework for determining a joint match probability is recommended. Statistical analyses of association were performed in 16 US populations between the autosomal genotypes from loci CSF1PO, FGA, THO1, TPOX, vWA, D3S1358, D5S818, D7S820, D8S1179, D13S317, D16S539, D18S512, D21S11 and Y chromosome haplotypes from loci DYS19, DYS385ab, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS438, and DYS439. The sample populations include individuals of European-, African-, Hispanic-, Native-, and Asian-American ancestry. The results are consistent with independence of Y and autosomal markers, although small amounts of dependence would likely have escaped our tests. Given the data in hand, we suggest it is appropriate to compute joint match probabilities by multiplying the Y haplotype frequency with the appropriately corrected autosomal frequency. In addition to correcting for autosomal frequency differences between groups, a further correction may be required. Since two individuals sharing the same Y haplotype are likely to be more recently related than two randomly chosen individuals, the autosomal frequencies have to be adjusted to account for this, akin to the theta correction used to account for population substructure. The structure imposed on the autosomal frequencies conditioned in a Y match is a function of the number of markers scored and their mutation rate. However, in most settings theta<0.01. When population structure is already present in the autosomes, the additional effect due to conditioning on the Y is small. For example, if the amount of structure in the population is theta=0.01 or 0.03 (the NRCII range), then the effect of conditioning on the Y results in only a trivial increase in theta to 0.02-0.04, respectively.     

The calculation of DNA match probabilities in mixed race populations

A coherent method is offered to estimate likelihood ratios for DNA match probabilities from mixed racial populations that avoids the approach of reporting separate estimates for each race. The method is demonstrated for some cases involving profiles derived from several individuals and incorporates a correction for 'subpopulation' effects.     

A framework for estimating probability of a match in forensic bite mark identification

In forensic dentistry, a human expert typically does the comparison and identification based on bite marks. Unlike DNA analysis, however, there is no quantitative basis with which to assign a probability for this given match. This paper proposes a framework for empirically estimating the probability of such a bite mark match and reports on initial experimental results. The methodology involved collection of dental population data (3D dental casts and bite mark images), image analysis for quantitatively measuring the degree of match (based on chamfer distance), and performing a logistic regression analysis using the collected population data to estimate the probability of match from the calculated degree of match. The model correctly predicted 35 of the 42 matches and 585 of the 588 mismatches. The method also has potential for use in other forensic applications in which the assignment of quantitative probabilities is important.     

The effect of linkage on the calculation of DNA match probabilities for siblings and half siblings

The loci in many forensic multiplexes are often selected to avoid linked loci. However as the multiplices used increase in the number of loci represented instances are occurring of loci that are loosely linked. As yet little attention has been paid to the likely consequence of this. We begin the process of developing formulae to give the match probability at two linked loci for full and half siblings. The methodology proceeds from the previously published joint IBD states for two linked loci [B.K. Suarez, J. Rice, T. Reich, The generalized sib pair IBD distribution: its use in the detection of linkage, Ann. Hum. Genet. Lond. 42 (1978) 87; J.K. Haseman, R.C. Elston, The investigation of linkage between a quantitative trait and a marker locus, Behav. Genet. 2 (1972) 3-19]. Our formulation has the drawback of assuming linkage equilibrium. This assumption may be tenable as a first order approximation. We hope to stimulate work on developing better treatments.     

The effect of linkage on the calculation of DNA match probabilities for siblings and half siblings

The loci in many forensic multiplexes are often selected to avoid linked loci. However as the multiplices used increase in the number of loci represented instances are occurring of loci that are loosely linked. As yet little attention has been paid to the likely consequence of this. We begin the process of developing formulae to give the match probability at two linked loci for full and half siblings. The methodology proceeds from the previously published joint IBD states for two linked loci [B.K. Suarez, J. Rice, T. Reich, The generalized sib pair IBD distribution: its use in the detection of linkage, Ann. Hum. Genet. Lond. 42 (1978) 87; J.K. Haseman, R.C. Elston, The investigation of linkage between a quantitative trait and a marker locus, Behav. Genet. 2 (1972) 3–19]. Our formulation has the drawback of assuming linkage equilibrium. This assumption may be tenable as a first order approximation. We hope to stimulate work on developing better treatments.     

Estimate of the random match frequency of acquired characteristics in a forensic footwear database

When analyzing footwear impression evidence, a significant task of the forensic examiner is to determine if a questioned impression could have originated from a known shoe. To form this opinion, examiners typically evaluate the similarity, quantity, and quality of shared class characteristics and characteristics of use. Since these criteria are developed through training and experience, and therefore purported to be subjective in nature, the opinions formed regarding footwear evidence can be misunderstood. One way to mitigate this criticism is to complement casework with research that includes quantitative analyses. The aim of this study was to estimate random match frequency of randomly acquired characteristics (RAC-RMF) in a research database comprised of 1,300 outsoles with more than 80,000 RACs. Based on a combination of visual comparisons (>91,000) and mathematical predictions (>3.8 million), results indicate that 32% of the outsoles in this dataset do not share any indistinguishable RAC pairs with each other, while 19% possess RAC-RMFs of 1 out of 1,299. At the other extreme, the maximum RAC-RMF observed was 49 out of 1,299. These results are based on high-quality test impressions, human assessments, and a single quantitative similarity metric, so they are considered specific to this dataset and method of analysis. Results could differ in other databases and with impressions of lower quality, and therefore should not be extrapolated to casework. Despite this limitation, the results provide a point of reference for how often RACs may repeat in position and geometry on non-mated outsoles, therefore forming the basis for future research.     

Computer-assisted systems for forensic pathology and forensic toxicology

A computer software, R?ttsBASE (RB), was developed for all forensic pathology units in Sweden and introduced in 1992. Simultaneously, a corresponding software, ToxBASE (TB), was developed for the Department of Forensic Toxicology, where all forensic toxicology in Sweden is managed. Both of the databases were created using dBASE IV, and the programming was carried out according to specifications from the staff at the forensic toxicology and forensic pathology units. since the development or RB and TB was coordinated, the systems can run together smoothly. The purpose of both systems was to automate the offices and to enable compilation of detailed statistics. Installation of Novell Netware and ISDN-connections (Integrated Service Digital Network) has enabled rapid communication between the units and easy compilation of nationwide statistics of forensic pathology and forensic toxicology. the systems offer a wide spectrum of reports and include a simple module for evaluation of the importance of the forensic efforts for th whole death investigation. The configuration of the softwares has also enabled processing of a large amount of related toxicological and autopsy data that in turn has yielded a base for compilation of toxicology interpretation lists. This article includes a summary of the features of the software and a discussion of its benefits and limitations.     

Scientific standards for studies in forensic genetics

Forensic molecular genetics has evolved from a rapidly developing field with changing technologies into a highly recognized and generally accepted forensic science, leading to the establishment of national DNA databases with DNA profiles from suspects and convicted offenders. DNA evidence has taken a central role by carrying a significant weight for convictions, as well as by excluding innocent suspects early on in a criminal investigation. Due to this impact on the criminal justice system, guidelines for research in forensic genetics have been introduced already since many years. The most important issues regarding the selection and definition of typing systems both for paternity testing and for forensic identification, the criteria for technical and biostatistical validation, as well as the use of mitochondrial DNA analysis are summarized and discussed.     

法医病理检案工作中的人为现象

目的 研究法医病理检案工作中常见的人为现象及其造成法医学鉴定结论错误的原因。方法 收集13例法医病理复核鉴定案例,并对其进行回顾性分析。结果 胸外心脏按压所致肋骨骨折,胸、腹腔出血及肺动脉栓塞栓子破碎,误认为生前外伤或死因不明5例;胰腺死后变化(自溶和被膜下及间质出血),误认为急性出血坏死性胰腺炎4例;死后动物咬伤误认为生前损伤2例;腐败尸斑误认为皮下出血1例;死后颈部解剖不当造成颈部肌肉出血,影响死因分析1例。结论 法医病理检案工作中的人为现象,常导致法医学鉴定的结论错误。     

物证鉴定的能力验证

能力验证是物证鉴定质量保障体系的重要组成部分,可以非常有效的评估、监控和提高实验室物证鉴定能力和质量。本文论述了物证鉴定能力验证的主要方法、形式、类型和特点,以及在物证鉴定实验室质量管理中的具体应用,介绍了国外物证鉴定实验室参加能力验证活动的历史和现状,并提出在我国物证鉴定实验室广泛开展能力验证活动的思考。     

中国法医学会物证专业委员会法医DNA分析的若干建议

中国法医学会法医物证学专业委员会与国际法医遗传学会中文专委会于2006年10月在成都召开学术会议。我们的讨论强调有必要将国际法医遗传学会的信息及时传递到中国。因此,按照国际法医遗传学会的指南,我们推荐混合斑分析,法医DNA数据库及新遗传标记选择标准供同行参考。     

On the training of specialists for forensic biological departments of forensic medical bureaus

The author analyses the main activities of the departments of forensic medicine in the Russian Medical Academy of Post-Diploma Education and the Sankt-Peterburg Medical Academy of Post-Diploma Education in the sphere of training and education of biologist experts. Information about the participants of these educational and training programs is presented. Taken together, these data give an idea of the character of post-diploma training of biologist experts and its dynamics during the period from 1950 and 2010. Results of the analysis may be of value for the long-term planning of advanced professional training and upgrading of qualification of the experts for forensic biological departments.     

Analyzing multiple logs for forensic evidence

Information stored in logs of a computer system is of crucial importance to gather forensic evidence of investigated actions or attacks. Analysis of this information should be rigorous and credible, hence it lends itself to formal methods. We propose a model checking approach to the formalization of the forensic analysis of logs. A set of logs is modeled as a tree whose labels are events extracted from the logs. In order to provide a structure to these events, we express each event as a term of algebra. The signature of the algebra is carefully chosen to include all relevant information necessary to conduct the analysis. Properties of the model, attack scenarios, and event sequences are expressed as formulas of a logic having dynamic, linear, temporal, and modal characteristics. Moreover, we provide a tableau-based proof system for this logic upon which a model checking algorithm can be developed. We use our model in a case study to demonstrate how events leading to an SYN attack can be reconstructed from a number of system logs.