1,378 results on '"Forensic DNA"'
Search Results
152. Validating Forensic DNA Workflows
- Author
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Iman Muharam and Carla Paintner
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Forensic dna ,Workflow ,Computer science ,Data science - Published
- 2022
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153. Identification and Mixture Deconvolution of Ancient and Forensic DNA using Population Genomic Data
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Vohr, Samuel Henry
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Bioinformatics ,Ancient DNA ,Forensic DNA ,Identification ,Mixtures - Abstract
Forensic scientists routinely use DNA for identification and to match samples with individuals. Although standard approaches are effective on a wide variety of samples in various conditions, issues such as low-template DNA samples and mixtures of DNA from multiple individuals pose significant challenges. Extreme examples of these challenges can be found in the field of ancient DNA, where DNA recovered from ancient remains is highly fragmented and marked by patterns of DNA-damage. Additionally, ancient libraries are often characterized by low endogenous DNA content and contaminating DNA from outside sources. As a result, standard forensics approaches, such as amplification of short-tandem repeats, are not effective on ancient samples. Alternatively, ancient DNA is routinely directly sequenced using high-throughput sequencing to survey the molecules that are present within a library. However, the resulting sequences are not easily compared for the purposes of identification, as each data set represents a random and, in some cases, non-overlapping, sample of the genome.In this dissertation, I present two approaches for interpreting shotgun sequences that address two common issues in forensic and ancient DNA: extremely low nuclear genome coverage and mixtures of sequences from multiple individuals. First, I present an approach to test for a common source individual between extremely low-coverage sequence data sets that makes use of the vast number of single-nucleotide polymorphisms (SNPs) discovered by surveys of human genetic diversity. As almost no observed SNP positions will be common to both samples, our method uses patterns of linkage disequilibrium as modeled by a panel of haplotypes to determine whether observations made across samples are consistent with originating from a single individual. I demonstrate the power of this approach using coalescent simulations, downsampled high-throughput sequencing data and published ancient DNA data. Second, I present an approach for interpreting mixtures of mitochondrial DNA sequences from multiple individuals. Mixed DNA samples are common in forensics investigations, either from the direct nature of a case (e.g., a sample containing DNA from both a victim and a perpetrator) or from outside contamination. I describe an expectation maximization approach for detecting the mitochondrial haplogroups contributing to a mixture and partitioning fragments by haplogroup to reconstruct the underlying haplotypes. I demonstrate the approach’s feasibility, accuracy, and sensitivity on both in silico and in vitro sequence mixtures. Finally, I present the results of applying our mixture interpretation approach on ancient contact DNA recovered from ~700 year old moccasin and cordage samples.
- Published
- 2016
154. Alternative approaches to population structure
- Author
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Morton, Newton E. and Weir, Bruce S., editor
- Published
- 1995
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155. The forensic debut of the NRC’s DNA report: population structure, ceiling frequencies and the need for numbers
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Kaye, D. H. and Weir, Bruce S., editor
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- 1995
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- View/download PDF
156. Forensic DNA Standards for Next Generation Sequencing Platforms (7th Annual SFAF Meeting, 2012)
- Author
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Vallone, Peter
- Published
- 2012
157. Medico-legal evidence collection in child sexual assault cases: a forensic significance
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Simarpreet Kaur, Banita Rawat, and Suminder Kaur
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Medico legal ,Medicine (General) ,Evidence collection ,Health (social science) ,Conviction rate ,education ,Evidence analysis ,K1-7720 ,social sciences ,Criminology ,Medico-legal ,Pathology and Forensic Medicine ,Forensic science ,Forensic dna ,Sexual assault kit ,Law in general. Comparative and uniform law. Jurisprudence ,R5-920 ,Sex organ ,Psychology ,Pre-pubertal victim ,Law ,health care economics and organizations ,Sexual assault - Abstract
Background Every year, millions of children face sexual exploitation worldwide. In India, 109 children (National Crime Records Bureau2018) were sexually abused everyday (22% jump from the previous year). Even with advanced DNA techniques, the conviction rate remains low. The methods used for forensic DNA evidence analysis vary around the world, but the primary step of biological evidence collection plays the most vital role. Proper and timely evidence collection from the victim by a trained medical professional is important. Main body Dynamics of child sexual assault being massively different from an adult rape demands altogether different approach of evidence collection. A standard sexual kit employed for evidence collection needs urgent modifications considering genital development of pre- and post-pubertal victims. In the present study, parameters including systemic collection and evaluation of forensic evidences, medico-legal examination, and developmental consequences of sexual assault on pre-pubertal victims were assessed. Further suggestions for separate evidence collection kit during medico-legal examination were given for pre-pubertal victims and alleged accused in sexual assault cases in order to streamline and for better evaluation of DNA analysis in forensic laboratories. Conclusion The importance of expert medical practitioners plays a significant role in collection of appropriate information and evidences from the victim of sexual assault. General guidelines for evidence collection in sexual assault cases are not well suited for pre-pubertal victims. Appropriate reforms pertaining to the age and genital development of victims are required. Securing clothing as forensic evidence is essential in most cases as it turned out to be the exclusive evidence bearing material. The purpose of this article is to bring awareness about the thorough medical examination and modified sexual assault kit for pre-pubertal victims and alleged accused for a better approach in evidence collection and conviction rate.
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- 2021
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158. The FORCE Panel: An All-in-One SNP Marker Set for Confirming Investigative Genetic Genealogy Leads and for General Forensic Applications
- Author
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Andreas Tillmar, Kimberly Sturk-Andreaggi, Charla Marshall, Jennifer Daniels-Higginbotham, and Jacqueline Tyler Thomas
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Forensic Genetics ,Forensic Science ,Concordance ,Genetic genealogy ,SNP ,Single-nucleotide polymorphism ,Computational biology ,QH426-470 ,Biology ,Endocrinology and Diabetes ,bone ,Polymorphism, Single Nucleotide ,Article ,Set (abstract data type) ,Forensic dna ,Gene Frequency ,Genetics ,Humans ,Disease markers ,Genetik ,Genetics (clinical) ,kinship ,Medicinsk genetik ,next generation sequencing ,Chromosomes, Human, X ,Chromosomes, Human, Y ,massively parallel sequencing ,High-Throughput Nucleotide Sequencing ,DNA ,Sequence Analysis, DNA ,DNA Fingerprinting ,hybridization capture ,Forensic science ,Phenotype ,Endokrinologi och diabetes ,Medical Genetics ,Rättsmedicin - Abstract
The FORensic Capture Enrichment (FORCE) panel is an all-in-one SNP panel for forensic applications. This panel of 5,422 markers encompasses common, forensically relevant SNPs (identity, ancestry, phenotype, X- and Y-chromosomal SNPs), a novel set of 3,931 autosomal SNPs for extended kinship analysis, and no clinically relevant/disease markers. The FORCE panel was developed as a custom hybridization capture assay utilizing ∼20,000 baits to target the selected SNPs. Five non-probative, previously identified World War II (WWII) cases were used to assess the kinship panel. Each case included one bone sample and associated family reference DNA samples. Additionally, seven reference quality samples, two 200-year-old bone samples, and four control DNAs were processed for kit performance and concordance assessments. SNP recovery after capture resulted in a mean of ∼99% SNPs exceeding 10X coverage for reference and control samples, and 44.4% SNPs for bone samples. The WWII case results showed that the FORCE panel could predict 1st to 5th degree relationships with strong statistical support (likelihood ratios over 10,000 and posterior probabilities over 99.99%). To conclude, SNPs will be important for further advances in forensic DNA analysis. The FORCE panel shows promising results and demonstrates the utility of a 5,000 SNP panel for forensic applications.
- Published
- 2021
159. A global snapshot of current opinions of next-generation sequencing technologies usage in forensics.
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Foley, Megan M. and Oldoni, Fabio
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NUCLEOTIDE sequencing ,FORENSIC genetics ,MITOCHONDRIAL DNA ,DNA analysis ,CRIME laboratories ,DNA ,COMMUNITIES - Abstract
The future of forensic DNA testing is being shaped by the research and usage of next-generation systems, which have increased the multiplexing capabilities of the field and the type and amount of genetic data that can be utilized for investigations. The NGS adoption for casework has been slow, albeit the plethora of data that has been published. This study evaluated the current opinions on sequencing in forensics. A 20-question online-survey focusing on NGS knowledge, training, and usage was distributed to 6001 forensic DNA researchers and practitioners worldwide. A total of 367 responses were obtained from all continents (North/South America (69.8%), Europe (21.2%), Asia (5.5%), Oceania (2.5%), and Africa (1%)). The respondents consisted of 50% practitioners, 31% researchers, and 19% both. Of these, 38% already own a next-gen sequencing instrument, and 13% are planning to purchase one. Overall, there exists an extensive knowledge on next-gen sequencing within the forensic community, including among laboratories that have not yet implemented this high-throughput technology in their workflows. Current usage focuses primarily on SNP analysis for investigative leads and mitochondrial DNA analysis while future applications included both STR and SNP testing applied to general casework. The major overall concerns respondents have for implementing a sequencing instrument include limited funding, staffing, lack of time, and the cost-effectiveness of providing this service. Specific technical concerns that the respondents had are the lack of training, statistical applications, bioinformatics support, and of rigorous guidelines and recommendations. Most of the respondents do believe there will be a technology shift from using CE only to the use of NGS on casework in 5–10 years. In addition, around 66% of respondents believe that it is moderately to very likely that the court will accept sequencing analysis. Sixteen percent fell in the middle, and the remaining 15% believe it is more unlikely, with 3% of respondents believing it is very unlikely. In conclusion, this work outlines current analytical challenges experienced by the global forensic DNA community and addresses different strategies for the implementation of next-gen sequencing technologies in casework. • General knowledge and experience to NGS applies to forensic laboratories worldwide. • Limited funding and training have the largest impact on NGS implementation plans. • Main concerns include lack of bioinformatics support and statistical applications. • In the 1–5 years, CE will remain the main technology, with an increase of NGS. • A gradual CE to NGS technology shift is expected in 5–10 + years. [ABSTRACT FROM AUTHOR]
- Published
- 2023
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160. Application of a panel of 14 D-loop mtDNA SNPs for the screening of highly degraded specimens in missing persons cases.
- Author
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Gustavo Chemale
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Single nucleotide polymorphism ,Mitochondrial DNA ,Haplotype diversity ,Brazil ,Forensic DNA ,Law ,Medicine - Abstract
We have developed an assay containing a panel of 14 highly discriminatory control region mtDNA SNPs to be typed using SNaPShotTM (Applied Biosystems) [1] for the screening of highly decomposed human remains in the forensic casework when mtDNA analysis is needed. The main goal of the assay is to apply a less labor intensive and less expensive screening method for mtDNA analysis, in order to aid in the exclusion of non-matching samples and as a presumptive test prior to final confirmatory DNA sequencing. The assay was validated by typing more than a hundred HVS-1/HVS-2 sequenced samples. No differences were observed between the SNP typing and DNA sequencing when results were compared, with the exception of null alleles observed in a few haplotypes. Haplotype diversity for a Brazilian population using 160 mtDNA sequences was 0.9794. In order to validate the assay, it was applied to identify maternal relationships in ten missing person cases. Bone samples from unidentified skeletal remains present in mortuaries were cleaned and ground in a cryogenic mill. DNA was extracted using the DNA IQ® (Promega) and PrepfilerTM Automated Forensic Extraction kit in the Automate ExpressTM Forensic DNA Extraction System (Applied Biosystems). Buccal swab samples from putative family members of the missing persons were extracted with Chelex® (Bio-Rad). mtDNA HVS-1 and HVS-2 segments were amplified in a single duplex PCR and SNPs were typed in a single multiplex SNaPShot reaction. When SNP profiles were compared, matches were only observed between the remains and their respective maternal relatives. One of the remains didn?t match any of the references. We did not get results from one of the bone samples. All results were further confirmed by autosomal STR analysis. Our results suggest that the method is straightforward and can be used for exclusionary purposes in the screening of casework samples, missing persons and mass disaster identifications, saving time and laboratory resources when mtDNA analysis is necessary.
- Published
- 2015
161. Identifying Democracy.
- Author
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Smith, Lindsay Adams
- Subjects
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DEMOCRACY , *DNA fingerprinting , *CITIZENSHIP , *DICTATORSHIP , *FORENSIC sciences - Abstract
In 1984, eight-year-old Paula Logares was called into a judge’s chambers and was told the man and woman she lived with were not her parents. Her parents had been disappeared during the dirty war, and now, through her blood, scientists would be able to return her to her birth family. Paula, thus, became the first “stolen” child in Argentina to be identified via the incipient technology of DNA identification. With this forensic first, DNA identification has emerged as a central tool of good governance the world round. From routine crime fighting to international criminal tribunals, DNA plays a crucial role in attempts to reckon with crimes of the body. As an alternative origin for forensic DNA, Argentina offers an early example of science emerging from social movements in the Global South. Drawing on twenty-seven months of fieldwork with family members, activists, and scientists, this article documents the ways in which DNA has emerged as a core site of subject formation for individuals and families affected by the terror of the dictatorship and for the Argentine nation-state, as it reckons with the legacies of repression. Through a feminist, postcolonial frame, I offer the concept of re(con)stitution as a way of attending to the forms of biocitizenship that emerge during times of humanitarian crisis and transitional justice. As a tool of reproductive governance, forensic DNA acts not only as a powerful disciplinary site of biocitizenship but also as a potential space to reimagine the social contract between the body, the public, and the state. [ABSTRACT FROM AUTHOR]
- Published
- 2016
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162. Characterization of genetic sequence variation of 58 STR loci in four major population groups.
- Author
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Novroski, Nicole M.M., King, Jonathan L., Churchill, Jennifer D., Seah, Lay Hong, and Budowle, Bruce
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NUCLEOTIDE sequence ,SHORT tandem repeat analysis ,CAPILLARY electrophoresis ,NUCLEOTIDE sequencing ,CHROMOSOME abnormalities ,ALLELE statistics - Abstract
Massively parallel sequencing (MPS) can identify sequence variation within short tandem repeat (STR) alleles as well as their nominal allele lengths that traditionally have been obtained by capillary electrophoresis. Using the MiSeq FGx Forensic Genomics System (Illumina), STRait Razor, and in-house excel workbooks, genetic variation was characterized within STR repeat and flanking regions of 27 autosomal, 7 X-chromosome and 24 Y-chromosome STR markers in 777 unrelated individuals from four population groups. Seven hundred and forty six autosomal, 227 X-chromosome, and 324 Y-chromosome STR alleles were identified by sequence compared with 357 autosomal, 107 X-chromosome, and 189 Y-chromosome STR alleles that were identified by length. Within the observed sequence variation, 227 autosomal, 156 X-chromosome, and 112 Y-chromosome novel alleles were identified and described. One hundred and seventy six autosomal, 123 X-chromosome, and 93 Y-chromosome sequence variants resided within STR repeat regions, and 86 autosomal, 39 X-chromosome, and 20 Y-chromosome variants were located in STR flanking regions. Three markers, D18S51, DXS10135, and DYS385a-b had 1, 4, and 1 alleles, respectively, which contained both a novel repeat region variant and a flanking sequence variant in the same nucleotide sequence. There were 50 markers that demonstrated a relative increase in diversity with the variant sequence alleles compared with those of traditional nominal length alleles. These population data illustrate the genetic variation that exists in the commonly used STR markers in the selected population samples and provide allele frequencies for statistical calculations related to STR profiling with MPS data. [ABSTRACT FROM AUTHOR]
- Published
- 2016
- Full Text
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163. Development of a normalized extraction to further aid in fast, high-throughput processing of forensic DNA reference samples.
- Author
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Connon, Catherine C., LeFebvre, Aaron K., and Benjamin, Robert C.
- Subjects
FORENSIC genetics ,CAPILLARY electrophoresis ,SHORT tandem repeat analysis ,POLYMERASE chain reaction ,NUCLEIC acid isolation methods ,DNA data banks - Abstract
The goal of this project was to develop a “normalized” extraction procedure to be used in conjunction with previously validated 3 μL fast PCR reactions (42–51 min utilizing KAPA2G™ Fast Multiplex PCR Kit) and alternative capillary electrophoresis (24–28 min injection using POP-6™ Polymer and a 22 cm array). This was the final phase of a workflow overhaul for the database unit at Cellmark Forensics to achieve a substantial reduction in processing time for forensic DNA database samples without incurring significant added costs and/or the need for new instrumentation, while still generating high quality STR profiles. Extraction normalization aimed to consistently yield a small range of DNA concentrations, thereby eliminating the need for sample quantification and dilution. This was specifically achieved using the ChargeSwitch ® Forensic DNA Purification Kit and a reduction in extraction bead quantity, thereby forcing an increase in bead binding efficiency. Following development of this extraction procedure, an evaluation ensued to assess the combination of normalized extraction, 3 μL fast PCR (with PowerPlex 16 HS, Identifiler Plus and Identifiler primer sets), and alternative CE detection – further referred to as new “first pass” procedures. These modifications resulted in a 37% reduction in processing time and were evaluated via an in depth validation, from which nearly 2000 STR profiles were generated, of which 554 profiles from 77 swab donors and 210 profiles from 35 buccal collector donors specifically arose from the new first pass procedures. This validation demonstrates the robustness of these processes for buccal swabs and Buccal DNA Collectors™ using the three primer sets evaluated and their ability to generate high quality STR profiles with 95–99% and 88–91% pass rates, respectively. [ABSTRACT FROM AUTHOR]
- Published
- 2016
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164. Population-specific FST values for forensic STR markers: A worldwide survey.
- Author
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Buckleton, John, Curran, James, Goudet, Jérôme, Taylor, Duncan, Thiery, Alexandre, and Weir, B.S.
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POPULATION differentiation ,SHORT tandem repeat analysis ,GENE frequency ,FORENSIC genetics ,DEMOGRAPHIC surveys - Abstract
The interpretation of matching between DNA profiles of a person of interest and an item of evidence is undertaken using population genetic models to predict the probability of matching by chance. Calculation of matching probabilities is straightforward if allelic probabilities are known, or can be estimated, in the relevant population. It is more often the case, however, that the relevant population has not been sampled and allele frequencies are available only from a broader collection of populations as might be represented in a national or regional database. Variation of allele probabilities among the relevant populations is quantified by the population structure quantity F ST and this quantity affects matching proportions. Matching within a population can be interpreted only with respect to matching between populations and we show here that F ST , can be estimated from sample allelic matching proportions within and between populations. We report such estimates from data we extracted from 250 papers in the forensic literature, representing STR profiles at up to 24 loci from nearly 500,000 people in 446 different populations. The results suggest that theta values in current forensic use do not have the buffer of conservatism often thought. [ABSTRACT FROM AUTHOR]
- Published
- 2016
- Full Text
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165. Low-level signal interference between samples separated on the 3500xL capillary electrophoresis platform.
- Author
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Hitchcock, Catherine, Glover, Jasmin, Kamilic, Vesna, and Neville, Sharon
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- *
METHODS in Electrophoresis , *ZONE electrophoresis , *CAPILLARY electrophoresis , *PHASE partition , *PROTON mobility - Abstract
A new phenomenon was detected using the Applied Biosystems 3500xL Genetic Analyzer. This phenomenon is characterised by a strong sample in an injection imparting low-level peaks to negative control samples positioned anywhere within the same injection. The affected negative controls did not display these peaks when processed in the absence of the strong sample. This phenomenon, hereafter described as ‘signal interference’, has been demonstrated to be an extension of the widely accepted capillary electrophoresis anomaly known as ‘crosstalk’. Signal interference has been observed in casework profile analysis and the potential implications for casework are discussed. [ABSTRACT FROM PUBLISHER]
- Published
- 2016
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166. Evaluation of a 13-loci STR multiplex system for Cannabis sativa genetic identification.
- Author
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Houston, Rachel, Birck, Matthew, Hughes-Stamm, Sheree, and Gangitano, David
- Subjects
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FORENSIC botany , *CANNABIS (Genus) , *HEMP , *SHORT tandem repeat analysis - Abstract
Marijuana ( Cannabis sativa) is the most commonly used illicit substance in the USA. The development of a validated method using Cannabis short tandem repeats (STRs) could aid in the individualization of samples as well as serve as an intelligence tool to link multiple cases. For this purpose, a modified 13-loci STR multiplex method was optimized and evaluated according to ISFG and SWGDAM guidelines. A real-time PCR quantification method for C. sativa was developed and validated, and a sequenced allelic ladder was also designed to accurately genotype 199 C. sativa samples from 11 U.S. Customs and Border Protection seizures. Distinguishable DNA profiles were generated from 127 samples that yielded full STR profiles. Four duplicate genotypes within seizures were found. The combined power of discrimination of this multilocus system is 1 in 70 million. The sensitivity of the multiplex STR system is 0.25 ng of template DNA. None of the 13 STR markers cross-reacted with any of the studied species, except for Humulus lupulus (hops) which generated unspecific peaks. Phylogenetic analysis and case-to-case pairwise comparison of 11 cases using F as genetic distance revealed the genetic association of four groups of cases. Moreover, due to their genetic similarity, a subset of samples ( N = 97) was found to form a homogeneous population in Hardy-Weinberg and linkage equilibrium. The results of this research demonstrate the applicability of this 13-loci STR system in associating Cannabis cases for intelligence purposes. [ABSTRACT FROM AUTHOR]
- Published
- 2016
- Full Text
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167. An assessment of the information content of likelihood ratios derived from complex mixtures.
- Author
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Marsden, Clare D., Rudin, Norah, Inman, Keith, and Lohmueller, Kirk E.
- Subjects
DNA ,GENOTYPES ,LIKELIHOOD ratio tests ,HEALTH outcome assessment ,STATISTICAL hypothesis testing ,COMPARATIVE studies - Abstract
With the increasing sensitivity of DNA typing methodologies, as well as increasing awareness by law enforcement of the perceived capabilities of DNA typing, complex mixtures consisting of DNA from two or more contributors are increasingly being encountered. However, insufficient research has been conducted to characterize the ability to distinguish a true contributor (TC) from a known non-contributor (KNC) in these complex samples, and under what specific conditions. In order to investigate this question, sets of six 15-locus Caucasian genotype profiles were simulated and used to create mixtures containing 2–5 contributors. Likelihood ratios were computed for various situations, including varying numbers of contributors and unknowns in the evidence profile, as well as comparisons of the evidence profile to TCs and KNCs. This work was intended to illustrate the best-case scenario, in which all alleles from the TC were detected in the simulated evidence samples. Therefore the possibility of drop-out was not modeled in this study. The computer program DNAMIX was then used to compute LRs comparing the evidence profile to TCs and KNCs. This resulted in 140,000 LRs for each of the two scenarios. These complex mixture simulations show that, even when all alleles are detected (i.e. no drop-out), TCs can generate LRs less than 1 across a 15-locus profile. However, this outcome was rare, 7 of 140,000 replicates (0.005%), and associated only with mixtures comprising 5 contributors in which the numerator hypothesis includes one or more unknown contributors. For KNCs, LRs were found to be greater than 1 in a small number of replicates (75 of 140,000 replicates, or 0.05%). These replicates were limited to 4 and 5 person mixtures with 1 or more unknowns in the numerator. Only 5 of these 75 replicates (0.004%) yielded an LR greater than 1,000. Thus, overall, these results imply that the weight of evidence that can be derived from complex mixtures containing up to 5 contributors, under a scenario in which no drop-out is required to explain any of the contributors, is remarkably high. This is a useful benchmark result on top of which to layer the effects of additional factors, such as drop-out, peak height, and other variables. [ABSTRACT FROM AUTHOR]
- Published
- 2016
- Full Text
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168. Multicolor-based discrimination of 21 short tandem repeats and amelogenin using four fluorescent universal primers.
- Author
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Asari, Masaru, Okuda, Katsuhiro, Hoshina, Chisato, Omura, Tomohiro, Tasaki, Yoshikazu, Shiono, Hiroshi, Matsubara, Kazuo, and Shimizu, Keiko
- Subjects
- *
AMELOGENIN , *SHORT tandem repeat analysis , *DNA primers , *LOCUS (Genetics) , *POLYMERASE chain reaction , *CAPILLARY electrophoresis - Abstract
The aim of this study was to develop a cost-effective genotyping method using high-quality DNA for human identification. A total of 21 short tandem repeats (STRs) and amelogenin were selected, and fluorescent fragments at 22 loci were simultaneously amplified in a single-tube reaction using locus-specific primers with 24-base universal tails and four fluorescent universal primers. Several nucleotide substitutions in universal tails and fluorescent universal primers enabled the detection of specific fluorescent fragments from the 22 loci. Multiplex polymerase chain reaction (PCR) produced intense FAM-, VIC-, NED-, and PET-labeled fragments ranging from 90 to 400 bp, and these fragments were discriminated using standard capillary electrophoretic analysis. The selected 22 loci were also analyzed using two commercial kits (the AmpFLSTR Identifiler Kit and the PowerPlex ESX 17 System), and results for two loci (D19S433 and D16S539) were discordant between these kits due to mutations at the primer binding sites. All genotypes from the 100 samples were determined using 2.5 ng of DNA by our method, and the expected alleles were completely recovered. Multiplex 22-locus genotyping using four fluorescent universal primers effectively reduces the costs to less than 20% of genotyping using commercial kits, and our method would be useful to detect silent alleles from commercial kit analysis. [ABSTRACT FROM AUTHOR]
- Published
- 2016
- Full Text
- View/download PDF
169. A Splendid Blend of Nanotechnology and Forensic Science.
- Author
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Chakraborty, Dhritiman, Rajan, Gopika, and Isaac, Rimal
- Subjects
- *
FORENSIC sciences , *NANOTECHNOLOGY , *HUMAN fingerprints - Abstract
Nanotechnology, which is being employed in all areas of technology, also finds application in the sector of forensics. It is evident that utilization of this technology will help the criminologists to solve the criminal mystery with greater accuracy and pace. Fingerprinting technology, deoxyribose nucleic acid (DNA) analysis, forensic material testing, etc., are some technical zones that are being invaded by nanoscience. This is a brief review about the applications of nanotechnology in forensics. It also provides insight to the future prospects of this amalgamation of technologies, leading to better scientific analysis of evidence suitable for legal proceedings. [ABSTRACT FROM AUTHOR]
- Published
- 2016
- Full Text
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170. A Practical Guide for the Formulation of Propositions in the Bayesian Approach to DNA Evidence Interpretation in an Adversarial Environment.
- Author
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Gittelson, Simone, Kalafut, Tim, Myers, Steven, Taylor, Duncan, Hicks, Tacha, Taroni, Franco, Evett, Ian W., Bright, Jo‐Anne, and Buckleton, John
- Subjects
- *
BAYESIAN analysis , *DNA analysis , *PROPOSITION (Logic) , *COMPLAINTS against police , *PROSECUTION - Abstract
The interpretation of complex DNA profiles is facilitated by a Bayesian approach. This approach requires the development of a pair of propositions: one aligned to the prosecution case and one to the defense case. This note explores the issue of proposition setting in an adversarial environment by a series of examples. A set of guidelines generalize how to formulate propositions when there is a single person of interest and when there are multiple individuals of interest. Additional explanations cover how to handle multiple defense propositions, relatives, and the transition from subsource level to activity level propositions. The propositions depend on case information and the allegations of each of the parties. The prosecution proposition is usually known. The authors suggest that a sensible proposition is selected for the defense that is consistent with their stance, if available, and consistent with a realistic defense if their position is not known. [ABSTRACT FROM AUTHOR]
- Published
- 2016
- Full Text
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171. Reverse complement-PCR, an innovative and effective method for multiplexing forensically relevant single nucleotide polymorphism marker systems
- Author
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Erik A.C. de Jong, Bruce Budowle, Walter van der Vliet, Jonathan L. King, Joop Theelen, and Magdalena M. Bus
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Forensic Genetics ,High-Throughput Nucleotide Sequencing ,Single-nucleotide polymorphism ,Computational biology ,DNA ,Sequence Analysis, DNA ,Biology ,Multiplexing ,DNA Fingerprinting ,Polymerase Chain Reaction ,Polymorphism, Single Nucleotide ,General Biochemistry, Genetics and Molecular Biology ,chemistry.chemical_compound ,Forensic dna ,chemistry ,Typing ,Biotechnology - Abstract
DNA analyses from challenging samples such as touch evidence, hairs and skeletal remains push the limits of the current forensic DNA typing technologies. Reverse complement PCR (RC-PCR) is a novel, single-step PCR target enrichment method adapted to amplify degraded DNA. The sample preparation process involves a limited number of steps, decreasing the labor required for library preparation and reducing the possibility of contamination due to less sample manipulation. These features of the RC-PCR make the technology a unique application to successfully target single nucleotide polymorphisms (SNPs) in fragmented and low copy number DNA and yield results from samples in which no or limited data are obtained with standard DNA typing methods. The developed RC-PCR short amplicon 85 SNP-plex panel is a substantial improvement over the previously reported 27-plex RC-PCR multiplex that will provide higher discrimination power for challenging DNA sample analyses.
- Published
- 2021
172. The face as folded object: Race and the problems with 'progress' in forensic DNA phenotyping
- Author
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Roos Hopman
- Subjects
0303 health sciences ,History ,Computer science ,05 social sciences ,General Social Sciences ,050905 science studies ,Object (computer science) ,Data science ,03 medical and health sciences ,Forensic dna ,Race (biology) ,History and Philosophy of Science ,Face (geometry) ,0509 other social sciences ,Set (psychology) ,030304 developmental biology - Abstract
Forensic DNA phenotyping (FDP) encompasses a set of technologies aimed at predicting phenotypic characteristics from genotypes. Advocates of FDP present it as the future of forensics, with an ultimate goal of producing complete, individualised facial composites based on DNA. With a focus on individuals and promised advances in technology comes the assumption that modern methods are steadily moving away from racial science. Yet in the quantification of physical differences, FDP builds upon some nineteenth- and twentieth-century scientific practices that measured and categorised human variation in terms of race. In this article I complicate the linear temporal approach to scientific progress by building on the notion of the folded object. Drawing on ethnographic fieldwork conducted in various genetic laboratories, I show how nineteenth- and early twentieth-century anthropological measuring and data-collection practices and statistical averaging techniques are folded into the ordering of measurements of skin color data taken with a spectrophotometer, the analysis of facial shape based on computational landmarks and the collection of iris photographs. Attending to the historicity of FDP facial renderings, I bring into focus how race comes about as a consequence of temporal folds.
- Published
- 2021
173. Pushing the Boundaries: Forensic DNA Phenotyping Challenged by Single-Cell Sequencing
- Author
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Birgit Bayer, Marta Diepenbroek, and Katja Anslinger
- Subjects
Forensic Genetics ,Genotype ,HIrisPlex-S ,Skin Pigmentation ,Computational biology ,Cell Separation ,Biology ,QH426-470 ,single-cell sequencing ,Polymorphism, Single Nucleotide ,FDP ,DNA sequencing ,Article ,Forensic dna ,low template DNA ,Gene Frequency ,ltDNA ,Genetics ,Humans ,Low template dna ,Hair Color ,Genetics (clinical) ,Massive parallel sequencing ,Eye Color ,Models, Genetic ,single-cell genomics ,massively parallel sequencing ,ancestry prediction ,Sequence Analysis, DNA ,DNA extraction ,DEPArray ,Single cell sequencing ,phenotype prediction ,Skin color ,Female ,next-generation sequencing ,mixture deconvolution ,Single-Cell Analysis ,forensic DNA phenotyping - Abstract
Single-cell sequencing is a fast developing and very promising field, however, it is not commonly used in forensics. The main motivation behind introducing this technology into forensics is to improve mixture deconvolution, especially when a trace consists of the same cell type. Successful studies demonstrate the ability to analyze a mixture by separating single cells and obtaining CE-based STR profiles. This indicates a potential use of the method in other forensic investigations, like forensic DNA phenotyping, in which using mixed traces is not fully recommended. For this study, we collected single-source autopsy blood from which the white cells were first stained and later separated with the DEPArray™ N×T System. Groups of 20, 10, and 5 cells, as well as 20 single cells, were collected and submitted for DNA extraction. Libraries were prepared using the Ion AmpliSeq™ PhenoTrivium Panel, which includes both phenotype (HIrisPlex-S: eye, hair, and skin color) and ancestry-associated SNP-markers. Prior to sequencing, half of the single-cell-based libraries were additionally amplified and purified in order to improve the library concentrations. Ancestry and phenotype analysis resulted in nearly full consensus profiles resulting in correct predictions not only for the cells groups but also for the ten re-amplified single-cell libraries. Our results suggest that sequencing of single cells can be a promising tool used to deconvolute mixed traces submitted for forensic DNA phenotyping.
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- 2021
174. Efficiency analysis of VersaPlex™ 27PY system in Central Indian Population: First report from Indian population
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Shivani Dixit, Pankaj Shrivastava, Ankit Srivastava, and R. K. Kumawat
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education.field_of_study ,Population ,Indian population ,Locus (genetics) ,Paternity ,Biology ,DNA Fingerprinting ,Pathology and Forensic Medicine ,Forensic science ,Issues, ethics and legal aspects ,Forensic dna ,Genetics, Population ,Gene Frequency ,Evolutionary biology ,Humans ,Typing ,Allele ,education ,Allele frequency ,Microsatellite Repeats - Abstract
In the current scenario, DNA typing is the need of forensic science field due to its ability to provide results in much shorter time. In view of advancement of forensic DNA typing and incensement in the number of STRs markers, Promega offered a new VersaPlex™ 27PY system with 27 loci (23 autosomal STR loci, Amelogenin, DYS391 and two rapidly mutating Y-STR loci (DYS570 and DYS576)). In this study, the efficacy of “23 autosomal STR loci” for paternity testing and personal identification was demonstrated in Indian population. For this, 217 central Indians were tested and all the statistical parameters of forensic and population genetic interest were calculated. In addition, sensitivity of the kit was also tested for forensic casework. During investigation with VersaPlex™ 27PY system, allele 11 at locus TPOX was observed to be most frequent with the highest allelic frequency 0.432. Studied 23 loci showed valuable together with highest value of combined power of discrimination (CPD = 1), combined power of exclusion (CPI = 0.9999999989) and lowest value of combined matching probability (CPM = 7.92x10-28).
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- 2021
175. Developmental validation of FaSTR™ DNA: Software for the analysis of forensic DNA profiles
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Judi Morawitz, Richard Wivell, Shan-I Lee, Xinlong Zhang, Stuart Cooper, Hannah Kelly, Laura Russell, Zane Kerr, Kevin Cheng, Jo-Anne Bright, and Meng-Han Lin
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K5000-5582 ,business.industry ,Analysis Software ,Computational biology ,Biology ,DNA profiling ,Pathology and Forensic Medicine ,Str profiling ,Electropherogram ,Criminal law and procedure ,chemistry.chemical_compound ,Forensic dna ,Software ,chemistry ,DNA typing ,Analysis software ,Developmental Validation ,DNA analysis ,business ,DNA - Abstract
The analysis of forensic DNA profiles is complicated by the presence of undesirable artefactual peaks such as stutter, pull-up, and dye blobs. We describe the developmental validation of FaSTR™ DNA analysis software, which can assist with the streamlined analysis of forensic DNA profiles. A total of 3403 single-source and mixed DNA profiles generated using seven different STR profiling kits were analysed in FaSTR™ DNA. Results were compared with outputs from GeneMapper™ ID-X analysis software. Over 99.95% of peak designations were concordant, corresponding to over 232,000 peaks. There were no significant differences found in peak size however differences in peak height were observed between the software programmes. Peaks greater than 1000 rfu were generally taller in GeneMapper™ ID-X than in FaSTR™ DNA. At lower peak heights, peaks were often taller in FaSTR™ DNA, due to differences in how each software applies baseline correction to the electropherogram. Allele-specific stutter filters in FaSTR™ DNA correctly designated 99.3% of stutter peaks analysed (5174 peaks comprising four stutter types) in 265 single-source GlobalFiler™ profiles. FaSTR™ DNA was shown to be effective for its intended use as analysis software for the designation of alleles and the identification of artefacts such as stutter, pull-up, and spikes.
- Published
- 2021
176. Allele frequencies of 15 STR loci (Identifiler™ kit) in Basque-Americans.
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Besecker, Jason, Peri, Gianluca, Davis, Michael, Zubizarreta, Josu, and Hampikian, Greg
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CHROMOSOME analysis , *BASQUES , *GENETIC mutation , *ALLELES , *GENOMES , *POLYMERASE chain reaction - Abstract
Individuals with Basque ancestry form a historically and culturally important minority of the population of the western United States. Allele frequencies for the 15 autosomal STRs in the AmpFlSTR® Identifiler® PCR Amplification Kit (Applied Biosystems) from 156 unrelated self-identified Basque individuals born in the United States are presented. Allele frequencies were used to calculate parameters commonly used in genetics and forensics including power of discrimination (PD), power of exclusion (PE), polymorphic information content (PIC), and expected heterozygosity (He). The sample population was also compared with the European Basque population and the major American ethnicities. [ABSTRACT FROM AUTHOR]
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- 2018
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177. Genetic portrait study for 23 Y-STR loci in the population of Rajasthan, India
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Baiju Mathur, Rajesh Kumar, Rajesh Yadav, Pankaj Shrivastava, Anand Kumar, Gyaneshwer Chaubey, and R.K. Kumawat
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Genetic Markers ,Male ,Veterinary medicine ,Population ,India ,Locus (genetics) ,Biology ,Pathology and Forensic Medicine ,Forensic dna ,parasitic diseases ,Ethnicity ,Humans ,Y-STR ,education ,education.field_of_study ,Chromosomes, Human, Y ,Haplotype ,Genetic Variation ,humanities ,Forensic science ,Genetics, Population ,Haplotypes ,Genetic relatedness ,Uttar pradesh ,geographic locations ,Microsatellite Repeats - Abstract
This study was conducted to come up with data on Y-STR markers for the population of Rajasthan comprising of the western arid region of India. Y-STR analysis is an established tool in forensic DNA casework and ancestry research. We analyzed 23 Y-STRs in randomly selected 310 unrelated individuals living within the geographical area of Rajasthan to establish parameters of forensic interest. Out of 310 haplotypes, 309 unique haplotypes were observed, which revealed a high discrimination capacity with a value of 0.997 for the studied loci. The gene diversity (GD) and haplotype diversity (HD) for the studied 23 Y STRs were found to be 0.664 and 0.666, respectively. In the population of Rajasthan, locus DYS385a/b showed the highest gene diversity with a value of 0.829 among all the studied loci. The studied population showed genetic relatedness with the populations of Madhya Pradesh, Uttar Pradesh, Jharkhand, and Himachal Pradesh.
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- 2020
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178. Multidisciplinary approach towards training of the next generation of forensic DNA analysts in Africa; a Kenyan perspective
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Milka Mwangi, Wallace D. Bulimo, Allan kingoro, Nicholas Mwikwabe, Eric A. Lelo, Naomi Njuguna, Sophie M. Gitonga, Francis Kimani, Muturi Njoka, Kizito Lubano, Janet Majanja, Eva Aluvaala Nambati, and Fred Eyase
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Kenya ,media_common.quotation_subject ,Policy and Management (in memory of Jay Siegel) ,Skills ,Forensic biology ,Perspective (graphical) ,ComputingMilieux_LEGALASPECTSOFCOMPUTING ,DNA ,Training (civil) ,Criminal investigation ,Pathology and Forensic Medicine ,Forensic dna ,Serology ,Multidisciplinary approach ,Political science ,lcsh:Criminal law and procedure ,Training ,Quality (business) ,Engineering ethics ,lcsh:K5000-5582 ,Law ,media_common ,Forensics - Abstract
The uptake of forensic DNA testing technologies in Africa has been slow despite the revolutionary technology being discovered and adopted 3 decades ago. African governments and partners have invested in construction and equipping of forensic laboratories in Africa but the benefits are yet to be realised as the laboratories are still faced with the challenge of shortage of adequately trained personnel. This paper describes an innovative multidisciplinary training approach that was developed and used to train officers from the Directorate of Criminal Investigations Kenya. We report on the structure, implementation and effectiveness of the training. It is expected that with the increased number of trained forensic DNA analysts, there will be an improvement in quality of forensic DNA evidence presented in courts and a reduction in backlog in the forensic biology laboratories in Kenya.
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- 2020
179. TranslucentID: analysis of complex DNA SNP mixtures with large numbers of donors
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Eric Schwoebel, Tara Boettcher, James Watkins, Martha S. Petrovick, Darrell O. Ricke, and Philip Fremont-Smith
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Massive parallel sequencing ,010401 analytical chemistry ,food and beverages ,Single-nucleotide polymorphism ,Computational biology ,Biology ,01 natural sciences ,DNA sequencing ,0104 chemical sciences ,Pathology and Forensic Medicine ,03 medical and health sciences ,Forensic dna ,chemistry.chemical_compound ,0302 clinical medicine ,chemistry ,Polymorphism (computer science) ,SNP ,030216 legal & forensic medicine ,DNA - Abstract
Mixture analysis of complex forensic DNA mixtures can identify multiple individuals who cannot be excluded using massively parallel sequencing (MPS) with single-nucleotide polymorphism (SNP...
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- 2019
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180. Background DNA on flooring: The effect of cleaning
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Bianca Szkuta, Xavier A. Conlan, J.B. Reither, E. Gray, Annalisa Durdle, and R.A.H. van Oorschot
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Toxicology ,Forensic dna ,Cleaning methods ,Sample (material) ,Genetics ,BDNA test ,Low activity ,Environmental science ,Left behind ,Living room ,Pathology and Forensic Medicine ,Bedroom - Abstract
The collection and detection of ‘background’ DNA (bDNA) from items submitted for forensic DNA sampling is a common occurrence when sampling surfaces for DNA left behind following an activity of interest. There are a number of factors that might affect the presence of bDNA on a surface, one of which is cleaning of the surface. Here, we investigate the impact of household cleaning methods on the presence of bDNA on flooring in five homes occupied by known and unrelated individuals. Two adjacent samples were collected pre- and post-cleaning from areas of high and low activity on floors within the kitchen, living room, bedroom and bathroom (i.e. four samples per room). Floors were cleaned by the participant according to their normal routine, with methods and products varying between rooms and homes. Overall, slightly greater quantities of DNA were obtained from samples taken prior to cleaning compared to post-cleaning. Further, major contributors were more frequently assigned in profiles from samples obtained pre-cleaning, although the number of contributors was generally greater in these profiles. This study highlights the need to consider domestic cleaning histories of a surface from which a sample is collected.
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- 2019
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181. The interpretation of forensic DNA profiles: an historical perspective
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Hannah Kelly, Duncan Taylor, Catherine McGovern, Zane Kerr, Jo-Anne Bright, and John Buckleton
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Forensic dna ,Multidisciplinary ,History ,DNA profiling ,ComputingMilieux_COMPUTERSANDSOCIETY ,Profiling (information science) ,ComputingMilieux_LEGALASPECTSOFCOMPUTING ,Data science - Abstract
The advent of DNA profiling in the 1980s has revolutionised forensic science. Forensic DNA profiling is a powerful tool that is used to both exonerate and implicate persons of interest in criminal ...
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- 2019
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182. The mitochondrial DNA control region sequences from the Chinese Miao population of southeastern China
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Jie Wang, Zheng Ren, Yubo Liu, Meiqing Yang, Hongling Zhang, Qiyan Wang, Cuiyun Le, and Jiang Huang
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0301 basic medicine ,China ,Aging ,Mitochondrial DNA ,Physiology ,Epidemiology ,Population ,Biology ,DNA, Mitochondrial ,Haplogroup ,03 medical and health sciences ,Forensic dna ,0302 clinical medicine ,Ethnicity ,Genetics ,Humans ,030216 legal & forensic medicine ,education ,mtDNA control region ,education.field_of_study ,Polymorphism, Genetic ,Haplotype ,Public Health, Environmental and Occupational Health ,Locus Control Region ,030104 developmental biology ,Haplotypes ,Evolutionary biology ,Reference database - Abstract
Background: Miao people are an officially recognised ethnic group living in southwest China, but have seldom been studied genetically, especially with respect to mtDNA data.Aim: To investigate the sequences and haplogroups of the mtDNA control region in a typical Miao population, with the aim of providing a good start for the expansion of the East Asian mtDNA reference database for forensic DNA analysis.Subjects and methods: We analysed 203 Miao individuals, looking at mtDNA control region sequences. We calculated and illustrated the haplotype frequencies, haplogroup distribution and pairwise Fst values between the Miao and six other worldwide populations to explore genetic polymorphisms and population relationships.Results: We observed 121 haplotypes with corresponding frequencies ranging from 0.0049 to 0.0690 in the Miao population. All the samples were assigned to 71 different haplogroups. The haplotype diversity and the random match probability were estimated to be 0.9844 and 0.0204, respectively. The pairwise Fst values and associated p values among seven populations suggest that the Miao population has significant differences to the other six populations, and is relatively isolated compared with them.Conclusions: Our results suggest that frequency estimates for mtDNA haplotypes in Miao ethnic groups should be determined independently rather than being pooled with other populations.
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- 2019
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183. Developmental validation of the Microreader™ 20A ID system
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Yang Fan, Meili Lv, Yinji Wang, Zhuo Li, Yifan Li, Yuqing Liu, Yu Zailiang, Chen Chuguang, Jing Zhu, Shengqiu Qu, Lin Zhang, Weibo Liang, and Hang Li
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Forensic Genetics ,Combined DNA Index System ,Clinical Biochemistry ,Locus (genetics) ,02 engineering and technology ,Computational biology ,Biology ,Polymerase Chain Reaction ,Sensitivity and Specificity ,01 natural sciences ,Biochemistry ,Analytical Chemistry ,Forensic dna ,Species Specificity ,Animals ,Humans ,National standard ,Analysis method ,010401 analytical chemistry ,Electrophoresis, Capillary ,Reproducibility of Results ,DNA ,021001 nanoscience & nanotechnology ,0104 chemical sciences ,Str loci ,Microsatellite ,0210 nano-technology ,Microsatellite Repeats - Abstract
The Microreader™ 20A ID system is designed for forensic applications such as personal identification, parentage testing, and research. It includes 13 combined DNA index system (CODIS) short tandem repeat (STR) loci (CSF1PO, FGA, TH01, TPOX, vWA, D3S1358, D5S818, D7S820, D8S1179, D13S317, D16S539, D18S51, and D21S11), three expanded CODIS STR loci (D12S391, D19S433, and D2S1338), three non-CODIS STR loci (D6S1043, Penta D, and Penta E), and the amelogenin locus in one reaction with a six-dye fluorescent (FAM, HEX, TAMAR, ROX, PUR, and QD550) analysis system. In this study, the Microreader™ 20A ID system was validated according to the Scientific Working Group on DNA Analysis Methods validation guidelines for forensic DNA Analysis methods and Chinese national standard, including PCR-based studies, sensitivity study, precision, and accuracy evaluation, stutter calculation, inhibitor tests, species specificity, and DNA mixture studies. Our results suggest that the Microreader™ 20A ID system is a useful tool for personal identification and parentage testing.
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- 2019
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184. Applying calibration to LRs produced by a DNA interpretation software
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M. Jones Dukes, John Buckleton, Simone N. Pugh, Jo-Anne Bright, and Ian W. Evett
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business.industry ,Computer science ,Calibration (statistics) ,010401 analytical chemistry ,computer.software_genre ,01 natural sciences ,0104 chemical sciences ,Pathology and Forensic Medicine ,Interpretation (model theory) ,03 medical and health sciences ,Forensic dna ,0302 clinical medicine ,Software ,030216 legal & forensic medicine ,Data mining ,business ,computer - Abstract
Ramos and Gonzalez-Rodriguez introduce the concept of calibration in order to determine whether a system of evidence presentation is a reliable assessor of evidential weight. In this paper, we appl...
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- 2019
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185. The Best Way Out is Always Through: Addressing the Problem of Untested Sexual Assault Kits (SAKs) through Multidisciplinary Collaboration
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Giannina Fehler-Cabral and Rebecca Campbell
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Health (social science) ,050901 criminology ,05 social sciences ,Law enforcement ,Multidisciplinary Collaboration ,Legal process ,Criminology ,Pathology and Forensic Medicine ,Forensic dna ,0501 psychology and cognitive sciences ,Biological evidence ,0509 other social sciences ,Psychology ,Law ,Applied Psychology ,050104 developmental & child psychology ,Sexual assault - Abstract
In jurisdictions throughout the United States, law enforcement personnel have not been routinely submitting sexual assault kits (SAKs) for forensic DNA testing. The biological evidence in t...
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- 2019
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186. Developmental validation of the Huaxia™ Platinum PCR amplification kit: A 6-dye multiplex direct amplification assay designed for Chinese reference samples
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Wilma Norona, Marc L. Short, Julio J. Mulero, Jianye Ge, Chang Zhong, Dennis Y. Wang, Siddhita Gopinath, and Robert Lagacé
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0301 basic medicine ,China ,Computational biology ,Biology ,Validation testing ,Specimen Handling ,Pathology and Forensic Medicine ,law.invention ,Identification system ,03 medical and health sciences ,Forensic dna ,0302 clinical medicine ,Asian People ,Gene Frequency ,Species Specificity ,law ,Ethnicity ,Genetics ,Animals ,Humans ,Multiplex ,030216 legal & forensic medicine ,Genotyping ,Polymerase chain reaction ,Mouth Mucosa ,DNA Fingerprinting ,Genetics, Population ,030104 developmental biology ,Microsatellite ,Multiplex Polymerase Chain Reaction ,Blood Chemical Analysis ,Microsatellite Repeats ,Forensic database - Abstract
The Huaxia™ Platinum Kit for short tandem repeat (STR) amplification was designed to meet the needs of the rapidly growing Chinese forensic database. This PCR multiplex allows simultaneous amplification of the following autosomal loci: D3S1358, vWA, D16S539, CSF1PO, TPOX, D8S1179, D21S11, D18S51, Penta E, D2S441, D19S433, TH01, FGA, D22S1045, D5S818, D13S317, D7S820, D6S1043, D10S1248, D1S1656, D12S391, D2S1338, Penta D and the gender-identification markers Yindel, and AMEL. The Huaxia™ Platinum Kit enables direct amplification from blood and buccal samples stored on treated and untreated paper, and features an optimized PCR protocol that yields time to results in less than 45 min. Developmental validation testing followed SWGDAM guidelines and demonstrated that this assay produces reproducible and accurate results. Studies on 798 individuals in 4 major Chinese ethnic groups produced highly concordant results with other commercially available STR genotyping kits. The validation results demonstrate that the Huaxia™ Platinum Kit is a robust and reliable identification system for forensic DNA databasing applications.
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- 2019
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187. Direct STR typing from fired and unfired bullet casings
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Phuvadol Thanakiatkrai and Budsaba Rerkamnuaychoke
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Chromatography ,Materials science ,Touch DNA ,010401 analytical chemistry ,Statistical difference ,01 natural sciences ,DNA extraction ,0104 chemical sciences ,Pathology and Forensic Medicine ,03 medical and health sciences ,Forensic dna ,Cartridge ,0302 clinical medicine ,DNA profiling ,Microsatellite ,Str typing ,030216 legal & forensic medicine ,Law - Abstract
Cartridges, bullets, and casings (CBCs) are commonly recovered after shooting incidents and could provide valuable DNA information from touch DNA that has been left behind during handling of bullets and loading of guns. Direct PCR, in which the DNA extraction and quantification steps are bypassed, has been shown to provide comparable and sometimes better results from touch DNA and trace DNA samples. Here, direct PCR was applied to touch DNA retrieved from bullet casings from three ammunition types and guns. The results were evaluated to determine whether the technique should be recommended as a standard operating protocol for forensic DNA analysts. Three experiments were carried out to investigate the following: the effect of firing bullets on DNA deposited on bullet casings; the effect of gun and ammunition types on short tandem repeat (STR) profile quality; and the feasibility of using direct PCR in real-world cases via typing of mock casework samples. DNA extraction resulted in a loss of about 40% of DNA originally deposited, and firing a bullet reduced the amount of DNA recovered by 27%. Using the direct PCR protocol, conventional extraction protocol, and dilution protocol on touch DNA from fired bullet casings, we recovered means (and 95% credible intervals), respectively, of 11.1 (7.9–13.9), 5.6 (3.0–7.7), and 2.3 (0.2–4.0) alleles. No statistical difference in alleles recovered was observed between different calibers of ammunition fired from three guns (9 mm, 7.62 mm, and 5.56 mm from Glock Model 19, AK47, and Tavor T-21, respectively). As expected, mixed DNA profiles were observed in 40% of the mock casework samples, in which guns were shared between volunteers. This study showed that direct amplification of touch DNA from bullet casings improved STR profiles. As direct PCR is quicker, cheaper, and resulted in more alleles recovered, forensic DNA analysts may benefit from using direct PCR.
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- 2019
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188. The efficacy of DNA mixture to mixture matching
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Jo-Anne Bright, Zane Kerr, Maarten Kruijver, John Buckleton, and Duncan Taylor
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Forensic Genetics ,0301 basic medicine ,Matching (statistics) ,Genotype ,Computer science ,Sample (material) ,Continuous models ,computer.software_genre ,Pathology and Forensic Medicine ,03 medical and health sciences ,Forensic dna ,investigative information ,0302 clinical medicine ,Gene Frequency ,Genetics ,Humans ,Crime scene ,030216 legal & forensic medicine ,Likelihood Functions ,Racial Groups ,DNA ,Likelihood ratio ,DNA Fingerprinting ,030104 developmental biology ,Data mining ,Forensic DNA ,computer ,Sample contamination ,mixture comparison ,Microsatellite Repeats - Abstract
Crown Copyright © 2019 Published by Elsevier B.V. This manuscript version is made available under the CC-BY-NC-ND 4.0 license: http://creativecommons.org/licenses/by-nc-nd/4.0/ This author accepted manuscript is made available following 12 month embargo from date of publication (March 2019) in accordance with the publisher’s archiving policy, Standard practice in forensic science is to compare a person of interest’s (POI) reference DNA profile with an evidence DNA profile and calculate a likelihood ratio that considers propositions including and excluding the POI as a DNA donor. A method has recently been published that provides the ability to compare two evidence profiles (of any number of contributors and of any level of resolution) comparing propositions that consider the profiles either have a common contributor, or do not have any common contributors. Using this method, forensic analysts can provide intelligence to law enforcement by linking crime scenes when no suspects may be available. The method could also be used as a quality assurance measure to identify potential sample to sample contamination. In this work we analyse a number of constructed mixtures, ranging from two to five contributors, and with known numbers of common contributors, in order to investigate the performance of using likelihood ratios for mixture to mixture comparisons. Our findings demonstrate the ability to identify common donors in DNA mixtures with the power of discrimination depending largely on the least informative mixture of the pair being considered. The ability to match mixtures to mixtures may provide intelligence information to investigators by identifying possible links between cases which otherwise may not have been considered connected.
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- 2019
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189. Análise transdisciplinar do Banco Nacional de Perfis Genéticos: técnicas moleculares e aspectos jurídicos
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Samantha Lopes Monteiro, Ívna Soares de Oliveira, and Tarcísio André Amorim de Carvalho
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SciELO ,lcsh:Social pathology. Social and public welfare. Criminology ,banco de dados ,forensic science ,Applied Mathematics ,General Mathematics ,lei 12.654/12, human identification ,law 12.654/12 ,forensic dna ,lcsh:HV1-9960 ,Genetic profile ,lcsh:Social Sciences ,lcsh:H ,Forensic dna ,Political science ,identificação humana ,dna forense ,National DNA database ,Humanities ,database - Abstract
O uso de marcadores moleculares para a identificação humana é uma estratégia aplicada nas atividades forenses no Brasil. A criação de bancos de perfis genéticos é uma tendência mundial. É esperado que o uso de tais dados não somente facilite a investigação de casos criminais, mas também leve à redução da criminalidade. O presente artigo objetiva-se realizar uma análise transdisciplinar sobre o Banco Nacional de Perfis Genéticos (BNPG), abordando a funcionalidade dele, apresentando também as técnicas moleculares aplicadas, além de suscitar discussões jurídicas geradas com a implantação do banco de dados nacional. Trata-se de uma revisão bibliográfica exploratória que foi elaborada a partir de uma pesquisa realizada em bases de dados bibliográficos como SciELO, PubMed e JusBrasil. A conscientização da funcionalidade potencial dessa ferramenta poderá despertar o interesse de mais especialistas de ambas as áreas, biológica e jurídica, para que possam aperfeiçoá-la e, futuramente, desenvolver outras aplicações.Palavras-Chave: Identificação Humana; DNA Forense; Banco de Dados; Ciências Forenses; Lei 12.654/12. AbstractThe use of molecular markers for human identification is a strategy applied in forensic investigation in Brazil. The creation of DNA databases is a worldwide trend. It is expected that the use of such data will not only assist investigation of criminal cases, but also lead to reduced crime. The present article aims to carry out a transdisciplinary analysis about the Brazilian National Genetic Profile Database, addressing its functionality, presenting also applied molecular techniques, as well as raising legal discussions generated with the implementation of the national DNA database. It is an exploratory bibliographic review that was elaborated from a research carried out in bibliographic databases like SciELO, PubMed and JusBrasil. Awareness of the potential functionality of this tool may raise the interest of more specialists in both biological and legal areas so that they can improve it and promote it in the future.Keywords: Human Identification; Forensic DNA; Database; Forensic Science; Law 12.654/12.
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- 2019
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190. Potential Use of Touch DNA in Terrorism Cases: A Report of Four Cases
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Mohammed A. Ghayyath and Noora R. Al Snan
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Explosive material ,Epidemiology ,Computer science ,Touch DNA ,Biochemistry (medical) ,Dna recovery ,Toxicology ,computer.software_genre ,Pathology and Forensic Medicine ,Forensic dna ,Explosive device ,Terrorism ,Data mining ,Forensic examination ,Law ,computer ,Collection methods - Abstract
The Kingdom of Bahrain is one of the few countries that has significant numbers of terrorist investigations, which has allowed our scientists to develop expertise in the forensic examination of post and pre-blast explosive exhibits. This paper presents a review of forensic investigations into improvised explosive device (IED) cases in the Kingdom of Bahrain from 2011. A total of four IED investigations were reviewed (i.e Directionally focused charges (DFC), Directional Focused Fragmentation Charge (DFFC) and Explosively formed penetrator/ projectiles (EFP). DNA recovery utilized different collection methods, such as swabbing, tape lifting, wiping and direct cutting of certain separated parts of the IEDs. Samples were extracted and purified with magnetic beads chemistry and quantified. Low copy DNA extracts were subjected to different concentration steps, and DNA extracts were amplified and processed for detection to obtain reliable results. Using the results of the study, we have developed the concept of Forensic DNA Intelligence, which involves the extraction of human cells deposited in low copy number in challenging areas within the evidence which can lead to significant results. This article will be very useful and informative to assist the forensic community in terrorism cases applications worldwide. Continued efforts must be made to re-evaluate standard operating protocols with empirical studies.
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- 2019
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191. Studies of hTERT DNA methylation assays on the human age prediction
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Ye Xin, Fangqi Cao, Ping Shi, Jing Sun, Min Peng, Yuxiang Tian, Wenbin Liu, and Kaikai Dong
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Adult ,Forensic Genetics ,Male ,Aging ,Adolescent ,Age prediction ,Computational biology ,Biology ,Real-Time Polymerase Chain Reaction ,01 natural sciences ,Pathology and Forensic Medicine ,law.invention ,Young Adult ,03 medical and health sciences ,Forensic dna ,0302 clinical medicine ,law ,Humans ,Telomerase reverse transcriptase ,030216 legal & forensic medicine ,Epigenetics ,Child ,Telomerase ,Polymerase chain reaction ,Aged ,010401 analytical chemistry ,Infant ,Methylation ,DNA Methylation ,Middle Aged ,0104 chemical sciences ,Real-time polymerase chain reaction ,Child, Preschool ,DNA methylation ,Linear Models ,Female - Abstract
As an important aspect of epigenetics, DNA methylation has been proven to be suitable for forensic DNA analysis. By detecting changes in DNA methylation, it is desirable to construct a model of age patterns associated with it to infer the age of the individual. The hTERT gene methylation is closely related to tumors, but there are few reports on the relationship between hTERT gene promoter methylation and age. In this study, we utilized the methylation-specific polymerase chain reaction and real-time PCR (relative quantification and absolute quantification) approach to explore the connection between hTERT DNA methylation and age prediction. We fit three models for age prediction based on methylation assay for 90 blood samples from donors aged 1–79 years old. Among them, the model of absolute quantification of real-time enabled the age prediction with R2 = 0.9634. We verified the linear regression model with a validation set of 30 blood samples where prediction average error was 4.29 years. Generally, this reliable method improves the DNA methylation analysis of forensic samples.
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- 2019
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192. Interpreting a major component from a mixed DNA profile with an unknown number of minor contributors
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Steven Weitz, John Buckleton, Todd W. Bille, and Jo-Anne Bright
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0301 basic medicine ,Likelihood Functions ,Component (thermodynamics) ,Minor (linear algebra) ,DNA ,DNA Fingerprinting ,Polymerase Chain Reaction ,Pathology and Forensic Medicine ,Interpretation (model theory) ,03 medical and health sciences ,Forensic dna ,030104 developmental biology ,0302 clinical medicine ,Gene Frequency ,DNA profiling ,Statistics ,Genetics ,Humans ,030216 legal & forensic medicine ,Microsatellite Repeats ,Mathematics - Abstract
Modern interpretation strategies typically require an assignment of the number of contributors (N) to a DNA profile. This can prove to be a difficult task, particularly when dealing with higher order mixtures or mixtures where one or more contributors have donated low amounts of DNA. Differences in the assigned N at interpretation can lead to differences in the likelihood ration (LR). If the number of contributors cannot reasonably be assigned, then an interpretation of the profile may not be able to be progressed. In this study, we investigate mixed DNA profiles of varying complexity and interpret them altering the assigned N. We assign LRs for true- and non- contributors and compare the results given different assignments of N over a range of mixture proportions. When a component of a mixture had a proportion of at least 10%, a ratio of at least 1.5:1 to the next highest component, and a DNA amount (as determined by STRmix™) of at least 50 rfu, the LR of the component for a true contributor was not significantly affected by varying N and was therefore suitable for interpretation and the assignment of an LR. LRs produced for minor contributors were found to vary significantly as the assigned N was changed. These heuristics may be used to identify profiles suitable for interpretation.
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- 2019
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193. Сhallenging Questions of Development and Application of DNA Banks for the Purposes of Criminology and Related Disciplines
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M. V. Sprindzuk, A. P. Konchits, and L. P. Titov
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0301 basic medicine ,National security ,Computer science ,business.industry ,DNA bank ,dna bank ,criminalistics ,biomarkers ,Genomics ,Information technology ,T58.5-58.64 ,Data science ,short tandem repeats ,03 medical and health sciences ,Identification (information) ,Forensic dna ,030104 developmental biology ,0302 clinical medicine ,ComputingMethodologies_PATTERNRECOGNITION ,genomics ,030216 legal & forensic medicine ,Suspect ,business ,criminology ,identity - Abstract
Review article presents essential information on DNA databases, forensic genomics for human identification and suspect characteristics. Author reports the essential information on the topic of forensic DNA databases and data processing. DNA databases are important tools for the improvement of performance of the security organizations and services with a final goal of national security enhancement.
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- 2019
194. Mass spectrometry-based SNP genotyping as a potential tool for ancestry inference and human identification in Chinese Han and Uygur populations
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Zihao Yang, Chengtao Li, Suhua Zhang, Jiashuo Zhang, Ruiyang Tao, and Jingyi Zhang
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China ,Genotype ,Genotyping Techniques ,Population ,Inference ,Single-nucleotide polymorphism ,Biology ,Polymorphism, Single Nucleotide ,01 natural sciences ,White People ,Pathology and Forensic Medicine ,03 medical and health sciences ,Forensic dna ,0302 clinical medicine ,Asian People ,Gene Frequency ,Ethnicity ,Cluster Analysis ,Humans ,SNP ,030216 legal & forensic medicine ,Chinese han ,education ,Principal Component Analysis ,education.field_of_study ,010401 analytical chemistry ,0104 chemical sciences ,SNP genotyping ,Genetics, Population ,Evolutionary biology ,Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization ,Identification (biology) - Abstract
Ancestry informative SNPs (AISNPs) are genetic variants that exhibit substantially different frequencies between populations from different geographical regions; thus, they can provide some valuable information regarding samples and be used in predicting an individual's ancestry origin. In this study, we selected the potentially best SNPs from our previous study with genome-wide high-density SNP data in mainland Chinese Uygur and Han populations and investigated the allele distribution patterns and genetic information of AISNPs with a mass spectrometry-based SNP genotyping panel. Mass spectrometry-based detection technology offers the opportunity to analyze forensic DNA samples and obtain SNP variants with accuracy and ease. The panel can distinguish and cluster Han and Uygur populations and is suitable for human identification and parentage testing in the two populations. Heatmap, PCA, and Structure analyses indicated that the ideal 64 AISNPs can collectively provide additional information on differences among populations from East Asia, South Asia, Europe and Africa. Additionally, the results proved that the Uygur population is the admixture of East Asia and Europe.
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- 2019
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195. Policy and regulatory implications of the new frontier of forensic genomics: direct-to-consumer genetic data and genealogy records
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Dennis McNevin, James Robertson, Christine Funk, Simon J. Walsh, Sally F. Kelty, and Nathan Scudder
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05 social sciences ,Law enforcement ,Genetic data ,ComputingMilieux_LEGALASPECTSOFCOMPUTING ,Genomics ,Data science ,Criminal investigation ,Forensic science ,03 medical and health sciences ,Forensic dna ,Frontier ,ComputingMethodologies_PATTERNRECOGNITION ,0302 clinical medicine ,050501 criminology ,Identification (biology) ,030216 legal & forensic medicine ,Sociology ,Law ,0505 law - Abstract
Law enforcement is moving from targeted forensic DNA analysis to more extensive use of genomics in support of criminal investigations and for related purposes, such as the identification of human r...
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- 2019
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196. Will history repeat itself? Growth mixture modeling of suspected serial sexual offending using forensic DNA evidence
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Rachael Goodman-Williams, Dhruv B. Sharma, Hannah Feeney, Wenjuan Ma, Rebecca Campbell, and Steven J. Pierce
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Data source ,Sociology and Political Science ,Social Psychology ,050901 criminology ,05 social sciences ,social sciences ,Commit ,Kit testing ,Latent class model ,Forensic dna ,Mixture modeling ,Conviction ,0501 psychology and cognitive sciences ,0509 other social sciences ,Psychology ,Law ,Applied Psychology ,050104 developmental & child psychology ,Sexual assault ,Clinical psychology - Abstract
Purpose Sexual offenders often commit more than one sexual assault, but there is variability in how many assaults they commit and in what pattern over time. Trajectory modeling studies typically use criminal history records as a data source to model perpetrators' sexual assault convictions, but this may underestimate the scope of offending because so few sexual assaults result in a conviction. Method We used both criminal history records and forensic DNA evidence from sexual assault kits (SAKs; also termed ‘rape kit’) to identity a sample of n = 392 serial offenders, all of whom were suspected of committing two or more sexual assaults. Results Using growth mixture models, we identified and validated a four-class model of suspected serial sexual offending spanning ages 16 to 60. The four classes varied in the overall number of sexual assaults committed by each perpetrator and the ages of peak offending. All classes included sexual assaults identified through rape kit testing and through criminal history records. Conclusions Forensic DNA testing of rape kits can help identify suspected serial sexual offenders. DNA testing plus criminal history searches on identified offenders as standard investigation practice would provide police with a more complete picture of offenders' criminal behavior.
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- 2019
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197. The effectiveness of the UK national DNA database
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Aaron Opoku Amankwaa and Carole McCartney
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Public security ,business.industry ,Policy and Management (in memory of Jay Siegel) ,Internet privacy ,National DNA database ,ComputingMilieux_LEGALASPECTSOFCOMPUTING ,Effectiveness ,Criminal investigation ,Pathology and Forensic Medicine ,Forensic dna ,DNA profiling ,DNA database ,Crime scene ,Profiling (information science) ,lcsh:Criminal law and procedure ,lcsh:K5000-5582 ,business ,Law - Abstract
Since the emergence of forensic DNA profiling and the corollary creation of DNA databases, efforts to maximise the efficiency and utility of DNA technology have intensified. Such efforts are expedient given the imperative that expenditure on DNA should be cost-effective and the benefits demonstrable. The practice of retaining DNA profiles in databases, either obtained from individuals involved in criminal investigations, or retrieved from suspected crime scenes, has spread globally. The UK's National DNA Database (NDNAD), created in 1995, is both one of the longest established, and biggest of such forensic DNA databases internationally. As such, it is instructive to look at whether there is evidence to demonstrate the effectiveness of this DNA database. This paper thus examines efforts to gauge the effectiveness of forensic DNA databases, concluding that while the UK NDNAD may have led directly to convictions in high profile crimes, its broader impact upon public security goals remains elusive. Keywords: Effectiveness, National DNA database, Criminal investigation, Public security
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- 2019
198. An introductory guide to evaluative reporting in forensic science
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D. Catoggio, Duncan Taylor, J. Bunford, G. Wevers, Kaye N. Ballantyne, and R. Morgan
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Forensic science ,03 medical and health sciences ,Forensic dna ,0302 clinical medicine ,Interpretation (philosophy) ,010401 analytical chemistry ,Engineering ethics ,030216 legal & forensic medicine ,Psychology ,01 natural sciences ,0104 chemical sciences ,Pathology and Forensic Medicine - Abstract
Evaluative reporting provides a balanced approach to evidence interpretation. The use of evaluative reporting in forensic DNA analysis is common practice and well understood in Australia and New Ze...
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- 2019
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199. Calculating the posterior odds from a single-match DNA database search
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Jeffery N Rouder, Nicholas Christenfeld, and John T. Wixted
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education.field_of_study ,Prior odds ,Computer science ,media_common.quotation_subject ,Population ,Neglect ,Odds ,Philosophy ,Forensic dna ,Statistics ,DNA database ,Database search engine ,High likelihood ,Statistics, Probability and Uncertainty ,education ,Law ,media_common - Abstract
Forensic evidence is often quantified by statisticians in terms of a likelihood ratio. When the evidence consists of a DNA match, the likelihood ratio is equal to the reciprocal of the ‘random match probability’ (p). When p is small (e.g. 1/10 million), the likelihood ratio is large (e.g. 10 million to 1). However, when a single match is obtained by searching a database, the prior odds that the forensic DNA was deposited by the matcher can be extremely low, in which case the posterior odds can be low as well despite the high likelihood ratio. Unfortunately, prosecutors, judges and jurors are at risk of misinterpreting the likelihood ratio as the posterior odds, a pervasive reasoning error known as base-rate neglect. Here, we propose a solution to that problem, which consists of evaluating the prior odds based on a case-independent estimate of the size of the active criminal population derived from database search statistics. The posterior odds that the forensic DNA belongs to the unidentified single-matcher can then be calculated (avoiding base-rate neglect).
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- 2019
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200. DNA recovery from fired hollow point ammunition
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Nicholas Booth and Brendan Chapman
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Computer science ,business.industry ,Ballistics ,Dna recovery ,Pathology and Forensic Medicine ,Ammunition ,Forensic dna ,Cartridge ,DNA profiling ,Crime scene ,Computer vision ,Artificial intelligence ,Dna quantitation ,business - Abstract
Firearm-related exhibits are often found at crime scenes. These exhibits may include the firearm, cartridges, cartridges cases or bullets. As ammunition needs to be handled to load the weapon, rega...
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- 2019
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