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1.
Whole genome sequencing has opened the doors to Investigative genetic genealogy (IGG) analysis of challenging forensic samples that are not suitable for microarray genotyping. These samples still do not typically achieve high enough coverage for direct genotype calling, therefore a pipeline for imputation from low coverage sequencing data was evaluated using data from the 1000 Genomes Project. This pipeline generated results suitable for IGG down to 0.25X coverage. Additionally, forensic samples from a variety of tissue types and input amounts were sequenced and successfully uploaded to genetic genealogy databases after imputation. 相似文献
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The Y-chromosome can be used as an identification method to find paternally related males of the perpetrator. When a close Y-haplotype match is identified, the time to their most recent common ancestor (tMRCA) needs to be estimated to reconstruct their genealogy. To date, two mutation models and three online tMRCA calculators exist. But, they do not include individual mutation rates with multi-step changes, while ignoring hidden multiple, back or parallel modifications. To improve tMRCA estimation, we developed a user-friendly calculator, the ‘YMrCA’, including all previously mentioned mutation characteristics. Here, a case using genealogical pairs with confirmed biological kinships visualizes the good estimation performance of the YMrCA compared to the state-of-the-art. Even when genealogical pairs have equal number of mutations, the YMrCA still estimates the correct number of generations due to the inclusion of individual Y-STR mutation rates and the different mutational influencing factors. 相似文献
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The presence of more than one DNA contributor in an evidentiary sample may preclude attempts to use forensic genetic genealogy to develop an investigative lead. To address this issue, we developed a workflow for deconvolution of SNP mixtures into single source profiles that are suitable for matching against a genealogical database. Using the method, two-contributor DNA mixtures assayed using a commercial SNP typing kit can produce informative match results for both major and minor contributors. 相似文献
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Interpretation of ancestry informative markers (AIMs) in a forensic case can be time-consuming as different tools are used that need to be initiated separately. We develop the ForAPP; an open-source pipeline (running offline) that initiates multiple ancestry prediction analyses and summarizes results in an interactive interface for interpretation of autosomal ancestry-informative markers. 相似文献
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Ellen Greytak;Stephanie Wyatt;Janet Cady;CeCe Moore;Steven Armentrout; 《Journal of forensic sciences》2024,69(5):1531-1545
Investigative genetic genealogy (IGG) has emerged as a highly effective tool for tying a forensic DNA sample to an identity. While much of the attention paid to IGG has focused on cases where the DNA is from an unknown suspect, IGG has also been used to help close hundreds of unidentified human remains (UHR) cases. Genome-wide single-nucleotide polymorphism (SNP) genotype data can be obtained from forensic samples using microarray genotyping or whole-genome sequencing (WGS) with protocols optimized for degraded DNA. After bioinformatic processing, the SNP data can be uploaded to public GG databases that allow law enforcement usage, where it can be compared with other users' data to find distant relatives. A genetic genealogist can then build the family trees of the relatives to narrow down the identity of the source of the forensic DNA sample. To date, 367 UHR identifications using IGG have been publicly announced. The same IGG techniques developed and refined for UHR cases have significant potential for disaster victim identification, where DNA is often extremely compromised, and close family references may not be available. This paper reviews the laboratory, bioinformatic, and genealogical techniques used in IGG for UHR cases and presents three case studies that demonstrate how IGG is assisting with remains identification. 相似文献
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《Forensic Science International: Genetics Supplement Series》2013,4(1):e21-e22
Two different insertion/deletion (indel) multiplexes have been used to analyse a subset of the CEPH Human Genome Diversity Panel as well as several additional populations collected locally in order to compare the effectiveness of the marker sets in differentiating the populations on a continental level. We show that both marker sets by themselves are able to achieve full continental population differentiation and combining all 67 markers leads to considerably higher accuracy of classification. While differentiation of the European and Middle Eastern population groups remains impossible, surprisingly high accuracy is achieved in assigning Central South Asian samples. 相似文献
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Microhaplotypes (MHs) are SNP-based multiallelic loci that have several advantages over individual SNPs and short tandem repeats (STRs). For several years we have been searching for better MHs based on the effective number of alleles at a locus (Ae) and the locus informativeness for population relationships (In) with thoughts of incorporating MHs into casework. We genotyped a multiplex of our best 90 MHs on 79 populations. We have ranked the 90 by Ae and analyzed the top 24 to evaluate their potential value in forensic casework. We chose 24 to compare with the popSTR dataset of 20 CODIS markers plus four other STRs commonly typed. PopSTR has full data on 32 populations; our 24 MHs have full data on 79 pops. We have compared the two sets of 24 loci (MH and STR) in four areas: individualization, biogeographic ancestry, kinship analysis, and mixture resolution. 相似文献
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《Forensic Science International: Genetics Supplement Series》2019,7(1):12-13
Ancestry testing can provide valuable information in forensic applications, but its efficiency has not yet been properly evaluated when used in highly admixed populations. In this work we tested a commercial ancestry panel containing 165 autosomal SNPs in 30 Dubai residents. Most of the tested individuals displayed, as expected, an admixed profile, but in general the main inferred ancestry was of Southwest Asian extraction, testifying that these tests can provide useful complementary forensic information. 相似文献
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《Forensic Science International: Genetics Supplement Series》2013,4(1):e123-e124
Modern sequencing technology makes it possible to genotype polymorphisms with high throughput and high multiplexing. We have searched for and identified many loci with 2 or more SNPs within the expanse of a 200 bp single sequence run and show that when linkage disequilibrium is not complete these loci have multiple alleles detected as phase-known haplotypes. These microhaplotype loci (microhaps) are a powerful tool for individual identification, ancestry inference, and determining family/clan relationships. 相似文献
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Yuchen Hu;Lawrence M. Wein; 《Journal of forensic sciences》2024,69(5):1699-1705
During an investigation using Forensic Investigative Genetic Genealogy, which is a novel approach for solving violent crimes and identifying human remains, reference testing—when law enforcement requests a DNA sample from a person in a partially constructed family tree—is sometimes used when an investigation has stalled. Because the people considered for a reference test have not opted in to allow law enforcement to use their DNA profile in this way, reference testing is viewed by many as an invasion of privacy and by some as unethical. We generalize an existing mathematical optimization model of the genealogy process by incorporating the option of reference testing. Using simulated versions of 17 DNA Doe Project cases, we find that reference testing can solve cases more quickly (although many reference tests are required to substantially hasten the investigative process), but only rarely (<1%) solves cases that cannot otherwise be solved. Through a mixture of mathematical and computational analysis, we find that the most desirable people to test are at the bottom of a path descending from an ancestral couple that is most likely to be related to the target. We also characterize the rare cases where reference testing is necessary for solving the case: when there is only one descending path from an ancestral couple, which precludes the possibility of identifying an intersection (e.g., marriage) between two descendants of two different ancestral couples. 相似文献
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ABSTRACTInvestigative interviewers apply a range of physical, cognitive, social or legalistic strategies to secure information from suspects. The perceived effectiveness of coercive and noncoercive strategies on turning points was examined by interviewing 34 practitioners and 30 high value detainees in East Asian and Western jurisdictions. Each recounted an interview with an initially uncooperative detainee who became cooperative, or an initially cooperative detainee who became resistant or silent. Analyses of interview narratives identified perceived turning points in the practitioner-suspect relationship associated with clear outcomes. Independent of jurisdiction, 56% of the noncoercive strategies were associated with cooperation, yielding reliable information in 49.4% and true admissions in 20.0% of the cases. In contrast, coercive strategies were perceived as more ineffective (58.9%) than effective (14.6%) in securing information. Physical coercion, intimidation and deception were most frequently acknowledged to yield false information. These findings suggested prioritisation of noncoercive social and physical interview strategies and international consensus on best practices. 相似文献
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“刘涌案”曾经在中国法律界甚至更大的社会范围引起很大的轰动与反响。围绕着“刘涌案”审理与判决所出现的各种问题,法律界以及社会大众等群体间产生了不同的认识与主张,从而在社会空间中产生了一系列事件。本文首先通过对“刘涌案”事件中不同群体对该案的看法及所依知识的分析,概括描述了该事件呈现出的各种刑事诉讼法律知识的存在状态。然后,对这些知识在建立程序规则以解决事件冲突中体现出的特点与相互间的结构关系进行了分析,进而阐述了该案程序规则所依据的知识理论在事件发展中展现出逻辑与系谱。接着,由“刘涌案”事件引申,对更大范围的中国法治现代化中的诉讼法律知识型的品格、结构进行了分析。最后,反思了对现今知识型条件下的刑事诉讼理论构建及制度建设中出现的问题,特别提出了中国问题和中国经验的重要性。 相似文献
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《Forensic Science International: Genetics Supplement Series》2019,7(1):87-89
Prediction of geographical ancestry using genetic markers has a great potential in forensic genetics and may be used as an investigative lead in crime casework or missing person identification. Exploration of AIMs in Pakistan is interesting due to the distinct subpopulations with multidirectional ancestry from different groups. In the current study, 87 individuals from the Punjabi population from Pakistan were investigated using the Precision ID Ancestry Panel (Thermo Fisher Scientific) to assess whether it was possible to diff ;erentiate Punjabi individuals from other populations. With this panel, it is revealed that Punjabis are admixed and cannot be distinguished from other populations in South Central Asia and the Middle East. 相似文献
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Personal identification in mass disasters and in crimes is essential for humanitarian, ethical and legal reasons. In these contexts, when individuals cannot be identified by standard forensic DNA analysis, the Forensic DNA Phenotyping and the analysis of the biogeographical ancestry could help. The aim of this study was to evaluate the potential of a new panel of 891 SNPs in predicting phenotypic traits and biogeographical origin to create a “biological identikit”. In addition to fresh biological material, old evidence found at the crime scene or extracted and long-term stored DNA were tested with 41 SNPs for phenotyping and 850 SNPs for ancestry. All the SNPs were successfully incorporated into a single two-step multiplex PCR reaction using the IonAmpliSeq ™ Library Plus and applied for massive parallel sequencing with the Ion S5 platform using up to 0.05 ng/µL of DNA. The analysis of the results was carried out with an in-house predictive algorithm and consulting 20 population databases. By comparing the results obtained with identikit or video-photographic surveys, it was possible to predict phenotype and ancestry with an accuracy greater than 90%. While these new markers cannot identify a specific individual, they can be a valuable investigative tool. 相似文献
17.
Individuals from Slovenia, Greece, Albania, and Eritrea were typed with the Precision ID Ancestry Panel and included among GenoGeographer’s nine reference populations (Sub-Saharan Africa, Horn of Africa, North Africa, Middle East, Europe, South/Central Asia, East Asia, and East and West Greenland). We tested the performance of GenoGeographer with the Admixture Module on AIM profiles of 3548 individuals assumed to belong to one of the reference populations. A total of 3387 (95.5 %) profiles were assigned to one or more of the reference populations, either a single population or an admixture of two or more populations, while 161 (4.5 %) profiles were not assigned to any reference population or admixtures thereof. For 1486 AIM profiles with no reference population of origin in GenoGeographer, the rejection rate was more than 70 % for AIM profiles from North and South America and less than 20 % for those from Central, North, and Northeast Asia. 相似文献
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《Forensic Science International: Genetics Supplement Series》2013,4(1):e43-e44
The RapidHIT™ Human DNA Identification System produces full STR DNA profiles (sample in, results out) in 90 min. Here we present results from a new protocol on the RapidHIT System, designed for crime scene samples. Data are presented for blood and saliva samples, with results for a range of samples and substrates. Success rates and sensitivity display a high level of performance for the sample types evaluated in the study and demonstrate the efficacy of the new protocol for crime scene samples. 相似文献
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Cristiana Baffone 《Boletín mexicano de derecho comparado / Instituto de Investigaciones Jurídicas, UNAM》2013,46(137):441-470
The development of assisted reproductive technologies has amplified the procreative expectations and has changed the traditional conception of parenthood. A significant example of this phenomenon is offered by surrogacy, whose practice has raised several questions. The present article, suggests considering two perspectives of the contemporary debate, the ethical and the juridical. On the one hand the ethical context points out the deepest problems of the practice, analyzing the role f thepeople involved and establishing a comparison between two bioethical currents, the liberal and the personalist. On the other hand, the legal perspective sets some considerations about the Italian and Mexican laws. 相似文献