ORCID Profile
0000-0003-1665-3367
Current Organisation
University of Technology Sydney
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Genetics Not Elsewhere Classified | Detection And Prevention Of Crime; Security Services | Gene Expression (incl. Microarray and other genome-wide approaches) | Biological Sciences Not Elsewhere Classified | Criminology | Other Biological Sciences | Genetics | Ecology And Evolution Not Elsewhere Classified | Materials Engineering | Composite Materials | Crop And Pasture Production Not Elsewhere Classified | Mineralogy And Crystallography | Forensic Biology | Organic Geochemistry Not Elsewhere Classified
Living resources (flora and fauna) | Justice and the law not elsewhere classified | Primary products from plants | Other | Criminal Justice | Biological sciences | Law Enforcement |
Publisher: Springer Science and Business Media LLC
Date: 16-03-2018
DOI: 10.1038/S41598-018-22975-6
Abstract: The Xinjiang Uyghur Autonomous Region of China (XUARC) harbors 47 ethnic groups including the Manchu (MCH: 0.11%), Mongols (MGL: 0.81%), Kyrgyz (KGZ: 0.86%) and Uzbek (UZK: 0.066%). To establish DNA databases for these populations, allele frequency distributions for 15 autosomal short tandem repeat (STR) loci were determined using the AmpFlSTR Identifiler PCR lification kit. There was no evidence of departures from Hardy–Weinberg equilibrium (HWE) in any of the four populations and minimal departure from linkage equilibrium (LE) for a very small number of pairwise combinations of loci. The probabilities of identity for the different populations ranged from 1 in 1.51 × 10 17 (MCH) to 1 in 9.94 × 10 18 (MGL), the combined powers of discrimination ranged from 0.99999999999999999824 (UZK) to 0.9999999999999999848 (MCH) and the combined probabilities of paternal exclusion ranged from 0.9999979323 (UZK) to 0.9999994839 (MCH). Genetic distances, a phylogenetic tree and principal component analysis (PCA) revealed that the MCH, KGZ and UZK are genetically closer to the Han population of Liaoning and the Mongol population of Mongolia while the MGL are closer to Han, Japanese, Korean, Malaysian, Hong Kong Han and Russians living in China.
Publisher: Elsevier BV
Date: 2013
DOI: 10.1016/J.FSIGEN.2012.10.001
Abstract: Human telogen hairs are commonly recovered as trace evidence but currently have limited use for forensic DNA analysis. Recent studies have revealed that telogen roots may be shed with adhering material that may contain cells, thus providing a potential source of nuclear DNA. A simple histological stain can be used to screen telogen roots for the presence of nuclei, thus increasing the chance of selecting roots that may yield nuclear DNA. Using this method to visualise nuclei, we surveyed 998 hairs from 136 in iduals, quantified the number of nuclei, extracted DNA and evaluated corresponding DNA yield and STR profiling success. Of the hairs screened, 35% of telogen roots contained nuclei and in total 6% of all roots screened had more than 100 nuclei. The number of nuclei associated with telogen roots was independent of the presence or absence of visibly adhering material, highlighting the importance of using histological staining rather than simple microscopic examination. DNA yield and STR profiling were significantly and positively correlated with nuclei number. The methods presented here can be incorporated into routine trace and DNA analysis providing an efficient and cost effective method to screen telogen hairs, and predict STR profiling success prior to destructive DNA analysis. The results of this study indicate telogen hairs may provide a reliable source of nuclear DNA for use in routine casework.
Publisher: Elsevier BV
Date: 12-2011
Publisher: Springer Science and Business Media LLC
Date: 12-07-2020
Publisher: Springer Science and Business Media LLC
Date: 07-08-2019
DOI: 10.1007/S00414-019-02129-7
Abstract: Inference of ancestry from biological evidence can provide investigative information, especially for unknown DNA donors. Although tools for predicting ancestry have been developing, ancestry research focusing on populations relevant for South Korea is not common and markers are seldom chosen specifically to differentiate Koreans from other East Asian and South East Asian populations. Here, we report ancestry informative markers (AIMs) for distinguishing six East/South East Asian regional populations: China, Japan, Indonesia, Philippines, South Korea and Thailand. In idual genotypes from these six populations were available in PanSNPdb: The HUGO Pan-Asian SNP Database. To select AIMs, we calculated four population ergence metrics for each SNP: Nei's F
Publisher: Elsevier BV
Date: 02-2017
Publisher: Elsevier BV
Date: 04-2023
Publisher: Elsevier BV
Date: 2022
DOI: 10.1016/J.FORSCIINT.2021.111101
Abstract: Over the recent few years, several DNA collection techniques and methodologies have been published for the recovery of DNA from fired cartridge cases. In this study, swabbing, the DNA collection technique currently used in our jurisdiction (NSW, Australia), was compared with tape lifting and soaking to assess DNA recovery rates, DNA quality and profile quality. Brass .22LR and 9mmP cartridges were used as they are the most commonly encountered in our jurisdiction. The cartridges (n = 107) were loaded into cleaned firearm magazines by three volunteers of unknown shedder status, to mimic routine casework s le types. Half of the handled cartridges were fired whilst the other half were kept unfired. STR genotypes were produced at both 29 and 30 PCR cycles to evaluate which improved handler allele detection. DNA recovery rates showed that swabbing recovered significantly less DNA than tape lifting and soaking. Whilst there were no significant differences between tape lifting and soaking, tape lifting, on average, yielded more DNA than soaking. The calibre of ammunition had no influence on DNA recovery and in line with expectations, firing was found to decrease DNA recovery for all three s ling techniques. Assessment of DNA quality showed no evidence of PCR inhibition in any of the s les for this study. However, degradation indices showed that most s les were slightly to moderately degraded. Fewer handler alleles were detected from both fired tape lifted and soaked cartridges than unfired cartridges. Whilst 30 lification cycles allowed for the detection of slightly more handler alleles, no statistically significant differences were found between 29 and 30 PCR cycles. Nonetheless, 50% of the profiles from unfired soaked cartridges that were non-uploadable after 29 cycles were uploadable after 30 cycles. Furthermore, 83% of profiles from unfired cartridges that were tape lifted were uploadable onto our jurisdiction's database at both 29 and 30 PCR cycles. All magazine controls, despite cleaning, contained some level of background DNA. Furthermore, increasing the number of PCR cycles to 30 also increased the detection of non-handler alleles in DNA profiles. Our results suggest tape lifting yields more uploadable profiles from unfired and fired cartridge cases than swabbing but also more adventitious (non-handler) alleles. However additional research will be needed to evaluate the full potential of this method.
Publisher: Elsevier BV
Date: 04-2016
Publisher: American Physical Society (APS)
Date: 13-07-2017
Publisher: Wiley
Date: 10-2016
Abstract: Forensic DNA-based intelligence, or forensic DNA phenotyping, utilises SNPs to infer the biogeographical ancestry and externally visible characteristics of the donor of evidential material. SNaPshot
Publisher: MDPI AG
Date: 26-05-2022
Abstract: Rapidly mutating Y-chromosomal short tandem repeats (RM Y STRs) with mutation rates ≥ 10−2 per locus per generation are valuable for differentiating amongst male paternal relatives where standard Y STRs with mutation rates of ≤10−3 per locus per generation may not. Although the 13 RM Y STRs commonly found in commercial assays provide higher levels of paternal lineage differentiation than conventional Y STRs, there are many male paternal relatives that still cannot be differentiated. This can be improved by increasing the number of Y STRs or choosing those with high mutation rates. We present a RM Y STR multiplex comprising 19 loci with high mutation rates and its developmental validation (repeatability, sensitivity and male specificity). The multiplex was found to be robust, reproducible, specific and sensitive enough to generate DNA profiles from s les with inhibitors. It was also able to detect all contributor alleles of mixtures in ratios up to 9:1. We provide preliminary evidence for the ability of the multiplex to discriminate between male paternal relatives by analyzing large numbers of male relative pairs (536) separated by one to seven meioses. A total of 96 mutations were observed in 162 meioses of father–son pairs, and other closely related male pairs were able to be differentiated after 1, 2, 3, 4, 5, 6 and 7 meiosis in 44%, 69%, 68%, 85%, 0%, 100% and 100% of cases, respectively. The multiplex offers a noticeable enhancement in the ability to differentiate paternally related males compared with the 13 RM Y STR set. We envision the future application of our 19 RM Yplex in criminal cases for the exclusion of male relatives possessing matching standard Y STR profiles and in familial searching with unknown suspects. It represents a step towards the complete in idualization of closely related males.
Publisher: Elsevier BV
Date: 09-2012
DOI: 10.1016/J.FSIGEN.2011.12.005
Abstract: Disaster victim identification (DVI) poses unique challenges for forensic personnel. Typical scenarios may involve many bodies or body parts to identify in remote locations with limited access to laboratory facilities and in extreme temperatures. Transportation of tissue s les to a forensic laboratory for DNA profiling can take weeks without refrigeration. As well as protecting DNA for subsequent analysis, tissue preservation methods ideally should be safe, readily available and easy to transport to the scene at relatively low cost. We examined eight tissue preservatives (salt, DMSO, ethanol, ethanol with EDTA, TENT buffer, RNAlater(®), DNA Genotek Tissue Stabilising Kit and DNAgard(®)) and compared the quantity and quality of DNA recovered from human tissue and preservative solution stored at 35°C. Salt, DMSO, ethanol solutions, DNA Genotek and DNAgard(®) produced full Identifiler(®) genotypes up to one month from DNA extracts. In addition, DMSO, DNA Genotek and DNAgard(®) produced full profiles from aliquots of the liquid preservative.
Publisher: Elsevier BV
Date: 03-2018
DOI: 10.1016/J.SCIJUS.2017.10.001
Abstract: Use of DNA in forensic science will be significantly influenced by new technology in coming years. Massively parallel sequencing and forensic genomics will hasten the broadening of forensic DNA analysis beyond short tandem repeats for identity towards a wider array of genetic markers, in applications as erse as predictive phenotyping, ancestry assignment, and full mitochondrial genome analysis. With these new applications come a range of legal and policy implications, as forensic science touches on areas as erse as 'big data', privacy and protected health information. Although these applications have the potential to make a more immediate and decisive forensic intelligence contribution to criminal investigations, they raise policy issues that will require detailed consideration if this potential is to be realised. The purpose of this paper is to identify the scope of the issues that will confront forensic and user communities.
Publisher: Springer Science and Business Media LLC
Date: 20-01-2018
DOI: 10.1007/S12024-017-9944-8
Abstract: Mitochondrial DNA (mtDNA) can provide a means for forensic identity testing when genotyping of nuclear DNA (nuDNA) targets is not possible due to degradation or lack of template. For degraded s les, an indication of the quantity and quality of mtDNA is essential to allow selection of appropriately sized targets for hypervariable region (HVR) analysis, which may conserve s le and resources. Three human-specific mtDNA targets of increasing length (86, 190 and 452 base pairs) were lified by singleplex quantitative real-time PCR (qPCR), capable of providing an index of mtDNA degradation from fragment length information. Quantification was achieved by preparation of a standard curve for each target, using a purified mtDNA standard containing all three targets of interest, which produced a linear, accurate and precise result from 1×10
Publisher: Elsevier BV
Date: 07-2004
Publisher: Springer Science and Business Media LLC
Date: 14-11-2016
DOI: 10.1007/S00414-016-1490-5
Abstract: Short tandem repeats are the gold standard for human identification but are not informative for forensic DNA phenotyping (FDP). Single-nucleotide polymorphisms (SNPs) as genetic markers can be applied to both identification and FDP. The concept of DNA intelligence emerged with the potential for SNPs to infer biogeographical ancestry (BGA) and externally visible characteristics (EVCs), which together enable the FDP process. For more than a decade, the SNaPshot
Publisher: Pleiades Publishing Ltd
Date: 07-2007
Publisher: Informa UK Limited
Date: 03-07-2015
Publisher: Elsevier BV
Date: 05-2019
Publisher: Elsevier BV
Date: 12-2007
Publisher: Informa UK Limited
Date: 11-01-2018
Publisher: Cambridge University Press (CUP)
Date: 10-2020
DOI: 10.1017/THG.2020.78
Abstract: Previous genetic studies on hair morphology focused on the overall morphology of the hair using data collected by self-report or researcher observation. Here, we present the first genome-wide association study (GWAS) of a micro-level quantitative measure of hair curvature. We compare these results to GWAS results obtained using a macro-level classification of observable hair curvature performed in the same s le of twins and siblings of European descent. Observational data were collected by trained observers, while quantitative data were acquired using an Optical Fibre Diameter Analyser (OFDA). The GWAS for both the observational and quantitative measures of hair curvature resulted in genome-wide significant signals at chromosome 1q21.3 close to the trichohyalin ( TCHH ) gene, previously shown to harbor variants associated with straight hair morphology in Europeans. All genetic variants reaching genome-wide significance for both GWAS (quantitative measure lead single-nucleotide polymorphism [SNP] rs12130862, p = 9.5 × 10 –09 observational measure lead SNP rs11803731, p = 2.1 × 10 –17 ) were in moderate to very high linkage disequilibrium (LD) with each other (minimum r 2 = .45), indicating they represent the same genetic locus. Conditional analyses confirmed the presence of only one signal associated with each measure at this locus. Results from the quantitative measures reconfirmed the accuracy of observational measures.
Publisher: Elsevier BV
Date: 2016
DOI: 10.1016/J.FSIGEN.2015.09.014
Abstract: Evolutionary and cultural history can affect the genetic characteristics of a population and influences the frequency of different variants at a particular genetic marker (allele frequency). These characteristics directly influence the strength of forensic DNA evidence and make the availability of suitable allele frequency information for every discrete country or jurisdiction highly relevant. Population sub-structure within Indonesia has not been well characterised but should be expected given the complex geographical, linguistic and cultural architecture of the Indonesian population. Here we use forensic short tandem repeat (STR) markers to identify a number of distinct genetic subpopulations within Indonesia and calculate appropriate population sub-structure correction factors. This data represents the most comprehensive investigation of population sub-structure within Indonesia to date using these markers. The results demonstrate that significant sub-structure is present within the Indonesian population and must be accounted for using island specific allele frequencies and corresponding sub-structure correction factors in the calculation of forensic DNA match statistics.
Publisher: Wiley
Date: 15-07-2020
DOI: 10.1002/WFS2.1356
Abstract: Short tandem repeat (STR) profiling of DNA has become ubiquitous in forensic practice and is used to associate people, objects, and places with each other and with crimes. STRs can include or exclude a suspect or victim as the donor of biological evidence. In the absence of a matching profile, however, STRs have limited value. It is possible, then, to extract other information from the DNA that might lead forensic investigators to an offender. Ex les include biogeographical ancestry (BGA) and externally visible characteristics (EVCs). These require alternative genetic markers including single nucleotide polymorphisms and microhaplotypes which can be genotyped on many different platforms including capillary electrophoresis, microarrays, and massively parallel sequencing (MPS). The Genetic Ancestry Lab (GAL) in Australia provides estimates of BGA and EVCs derived from DNA that is extracted from biological evidence and then subjected to targeted licon enrichment and subsequent MPS. This review will describe the process of BGA prediction employed by the GAL as well as describing alternative practices. Limitations are addressed and future directions highlighted, including resolution of genetic admixture. It is highly likely that inference of BGA will become standard forensic practice, performed simultaneously with or in addition to STR profiling, and it is hoped that this review might provide a road map. This article is categorized under: Forensic Anthropology Ancestry Determination Forensic Science in Action/Crime Scene Investigation From Traces to Intelligence and Evidence Forensic Biology Ancestry Determination using DNA Methods Forensic Biology Forensic DNA Technologies
Publisher: Elsevier BV
Date: 02-2014
DOI: 10.1016/J.FORSCIINT.2013.12.006
Abstract: Bacterial infections, including Bacillus anthracis (anthrax), are a common risk associated with illicit drug use, particularly among injecting drug users. There is, therefore, an urgent need to survey illicit drugs used for injection for the presence of bacteria and provide valuable information to health and forensic authorities. The objectives of this study were to develop a method for the extraction of bacterial DNA from illicit drugs and conduct a metagenomic survey of heroin and meth hetamine seized in the Australian Capital Territory during 2002-2011 for the presence of pathogens. Trends or patterns in drug contamination and their health implications for injecting drug users were also investigated. Methods based on the ChargeSwitch(®)gDNA mini kit (Invitrogen), QIA DNA extraction mini kit (QIAGEN) with and without bead-beating, and an organic phenol/chloroform extraction with ethanol precipitation were assessed for the recovery efficiency of both free and cellular bacterial DNA. Bacteria were identified using polymerase chain reaction and electrospray ionization-mass spectrometry (PCR/ESI-MS). An isopropanol pre-wash to remove traces of the drug and diluents, followed by a modified ChargeSwitch(®) method, was found to efficiently lyse cells and extract free and cellular DNA from Gram-positive and Gram-negative bacteria in heroin and meth hetamine which could then be identified by PCR/ESI-MS. Analysis of 12 heroin s les revealed the presence of DNA from species of Comamonas, Weissella, Bacillus, Streptococcus and Arthrobacter. No organisms were detected in the nine meth hetamine s les analysed. This study develops a method to extract and identify Gram-positive and Gram-negative bacteria from illicit drugs and demonstrates the presence of a range of bacterial pathogens in seized drug s les. These results will prove valuable for future work investigating trends or patterns in drug contamination and their health implications for injecting drug users as well as enabling forensic links between seizures to be examined.
Publisher: Elsevier BV
Date: 02-2019
DOI: 10.1016/J.FORSCIINT.2018.12.011
Abstract: Anthrax, caused by the Gram-positive, spore forming bacterium Bacillus anthracis, is a disease with naturally occurring outbreaks in many parts of the world, primarily in domestic and wild herbivores. Due to the movement of people and stock, B. anthracis could, however, be at transportation hubs including airports. The continuous threat to national and international security from a biological agent release, or hoax attack, is a very real concern. Sensitive, robust and rapid (hours-day) methods to identify biological agents, including B. anthracis, and distinguish pathogenic from non-pathogenic species, is an essential cornerstone to national security. The aim of this project was to determine the presence of Bacillus species at the Canberra Airport using two massively parallel sequencing (MPS) approaches and compare with previous results using real-time polymerase chain reaction (qPCR). S les were collected daily for seven days each month from August 2011-July 2012 targeting movement of people, luggage and freight into and out of the Canberra Airport. Extracted DNA was analysed using qPCR specific for B. anthracis. A subset of s les was analysed using two MPS approaches. Approach one, using the Ion PGM™ (Thermo Fisher Scientific TFS) and an in-house assay, targeted the two B. anthracis virulence plasmids (cya and capB genes) and a single conserved region of the 16S rRNA gene. Approach two, using the Ion S5™ (TFS) and the commercial Ion 16S™ Metagenomics Kit (TFS), targeted multiple regions within the bacterial 16S rRNA gene. Overall there was consistency between the two MPS approaches and between MPS and qPCR, however, MPS was more sensitive, particularly for plasmid detection. Whilst the broad-range 16S genomic target(s) used in both MPS approaches in this study was able to generate a metagenomic fingerprint of the bacterial community at the Canberra Airport, it could not resolve Bacillus species beyond the level of the Bacillus cereus group. The inclusion of B. anthracis virulence plasmid targets in the in-house assay did allow for the potential presumptive identifications of pathogenic species. No plasmid targets were in the Ion 16S™ Metagenomics Kit. This study shows the choice of target(s) is key in MPS assay development and should be carefully considered to ensure the assay is fit for purpose, whether as an initial screening (presumptive) or a more specific (but not entirely confirmatory) test. Identification approaches may also benefit from a combination of MPS and qPCR as each has benefits and limitations.
Publisher: Elsevier BV
Date: 10-2024
Publisher: Informa UK Limited
Date: 03-2019
Publisher: Elsevier BV
Date: 04-2001
DOI: 10.1016/S0043-1354(00)00373-0
Abstract: A new, mechanistic approach for design and analysis of subsurface flow (SSF) constructed wetlands is presented. The model is based on the assumption that the biological processes in wetlands, like other biological systems, exhibit Monod kinetics. A Monod approach fits well with observed wetland performance. It predicts first-order behaviour at low concentrations, that is, pollutant removal rates which increase with increasing pollutant concentration and zero-order or saturated behaviour at high pollutant concentrations, that is, a maximum pollutant removal rate. A kinetic analysis of subsurface flow constructed wetlands exhibiting Monod kinetics reveals that loading rate, as well as the zero-order degradation rate constant, are essential parameters for efficient wetlands design for the removal of organic carbon. In particular, Monod kinetics enables the identification of an absolute maximum removal rate which is necessary to prevent undersizing in design. This is significant because it represents a theoretical upper bound on loading rate for wetlands design. The analysis is applied to wetlands data collected in North America by the US EPA in order to extract design criteria for BOD removal. It reveals that maximum loadings for SSF wetlands are at least 80 kg ha-1 d-1 for BOD. In addition, a new dimensionless performance efficiency parameter, omega, is presented as a more effective means of comparing wetland performance.
Publisher: Springer Science and Business Media LLC
Date: 19-03-2018
DOI: 10.1007/S00414-018-1785-9
Abstract: AbstractThe ability to provide accurate DNA-based forensic intelligence requires analysis of multiple DNA markers to predict the biogeographical ancestry (BGA) and externally visible characteristics (EVCs) of the donor of biological evidence. Massively parallel sequencing (MPS) enables the analysis of hundreds of DNA markers in multiple s les simultaneously, increasing the value of the intelligence provided to forensic investigators while reducing the depletion of evidential material resulting from multiple analyses. The Precision ID Ancestry Panel (formerly the HID Ion AmpliSeq™ Ancestry Panel) (Thermo Fisher Scientific) (TFS)) consists of 165 autosomal SNPs selected to infer BGA. Forensic validation criteria were applied to 95 s les using this panel to assess sensitivity (1 ng-15 pg), reproducibility (inter- and intra-run variability) and effects of compromised and forensic casework type s les (artificially degraded and inhibited, mixed source and aged blood and bone s les). BGA prediction accuracy was assessed using s les from in iduals who self-declared their ancestry as being from single populations of origin (n = 36) or from multiple populations of origin (n = 14). Sequencing was conducted on Ion 318™ chips (TFS) on the Ion PGM™ System (TFS). HID SNP Genotyper v4.3.1 software (TFS) was used to perform BGA predictions based on admixture proportions (continental level) and likelihood estimates (sub-population level). BGA prediction was accurate at DNA template amounts of 125pg and 30pg using 21 and 25 PCR cycles respectively. HID SNP Genotyper continental level BGA assignments were concordant with BGAs for self-declared East Asian, African, European and South Asian in iduals. Compromised, mixed source and admixed s les, in addition to sub-population level prediction, requires more extensive analysis.
Publisher: Springer Science and Business Media LLC
Date: 08-06-2021
DOI: 10.1038/S41467-021-23778-6
Abstract: DNA methylation plays a fundamental role in the control of gene expression and genome integrity. Although there are multiple tools that enable its detection from Nanopore sequencing, their accuracy remains largely unknown. Here, we present a systematic benchmarking of tools for the detection of CpG methylation from Nanopore sequencing using in idual reads, control mixtures of methylated and unmethylated reads, and bisulfite sequencing. We found that tools have a tradeoff between false positives and false negatives and present a high dispersion with respect to the expected methylation frequency values. We described various strategies to improve the accuracy of these tools, including a consensus approach, METEORE ( omprna/METEORE ), based on the combination of the predictions from two or more tools that shows improved accuracy over in idual tools. Snakemake pipelines are also provided for reproducibility and to enable the systematic application of our analyses to other datasets.
Publisher: Springer Science and Business Media LLC
Date: 19-06-2014
DOI: 10.1007/S12024-014-9578-Z
Abstract: In recent times, but especially since 2001, bioterrorism has been of increasing concern. In addition to the use of biological agents, including Bacillus anthracis (anthrax), there have been numerous hoax white powder "scares." It is imperative to rapidly and accurately identify any suspicious powder as hazardous or hoax. Classical methods for identification typically rely on time-consuming cultivation or highly specific molecular tests which are limited if the agent is unknown. Faster and field portable methods for analysis of suspicious powders are urgently required. Potential hoax agents, including Bacillus species and household powders, were analyzed using automated microfluidic capillary electrophoresis to determine if protein profiling can distinguish between, and identify, s les. Distinctive protein profiles were produced for Bacillus species, with the presence and/or absence of certain bands, aiding identification. In particular B. anthracis Sterne strain contained a distinctive doublet band above 100 kDa which was not present in any other Bacillus species or hoax agents examined. The majority of powders produced distinctive banding that could enable the identification of the s le while simultaneously ruling out B. anthracis with a high degree of confidence. Results show automated microfluidic capillary electrophoresis can rapidly and reproducibly characterize Bacillus species and hoax agents based on protein profiles without the need for culture. Results were reproducible and there was enhanced resolution and rapidity compared to traditional protein profiling methods. Results show this technique is amenable to field use at a bioterrorism incident, thereby providing essential information to investigators regarding containment and treatment strategies.
Publisher: Informa UK Limited
Date: 03-2011
Publisher: Springer Science and Business Media LLC
Date: 22-05-2015
DOI: 10.1007/S12024-015-9679-3
Abstract: The primary method for analysis of low template DNA (LTDNA) is known as the low copy number (LCN) method involving an increased number of PCR cycles (typically 34). In common with other LTDNA methods, LCN profiles are characterized by allelic imbalance, drop in, and drop out that require complicated interpretation rules. They often require replicate PCR reactions to generate a "consensus" profile in a specialized facility. An ideal method for analysis of LTDNA should enhance profiling outcomes without elevated error rates and be performed using standard facilities, with minimum additional cost. In this study, we present a comparison of four method variations for the lification of STRs from LTDNA with a widely used, commercially available kit (AmpFℓSTR(®) Profiler Plus(®)): the standard method, the standard method with a post-PCR clean up, the LCN method, and a reduced reaction volume with increased Taq DNA polymerase concentration. Using telogen hairs-a common source of LTDNA-and matched reference DNA, the LCN method produced the highest number of concordant and non-concordant (i.e., dropped-in) alleles. In comparison, the reduced reaction volume with increased Taq polymerase yielded more full and concordant DNA profiles (all alleles combined) and less off-ladder alleles from a broad range of input DNA. In addition, this method resulted in less non-concordant alleles than LCN and no more than for standard PCR, which suggests that it may be preferred over increased PCR cycles for LTDNA analysis, either with or without consensus profiling and statistical modelling. Overall, this study highlights the importance and benefit of optimizing PCR conditions and developing improved laboratory methods to lify and analyze LTDNA.
Publisher: Elsevier BV
Date: 2019
DOI: 10.1016/J.GENE.2018.10.020
Abstract: X-chromosomal short tandem repeats (X-STRs) have been widely used in forensic practice involving complicated cases of kinship and also play an increasingly important role in population genetics. X-STRs have been studied in regional populations of China but there is a lack of data for the Manchu population. In this study, we have investigated the forensic genetic properties of 12 X-STRs in the Investigator Argus X-12 Kit (QIAGEN, Hilden, Germany) in 772 Manchu (male = 514, female = 258) in iduals from the Xiuyan and Huanren Manchu autonomous counties of Liaoning province. We observed a total of 166 alleles at 12 X-STR loci with allele frequencies ranging from 0.001295to 0.615285. The most polymorphic locus was DXS10135 with 24 alleles while DXS7423 was the least polymorphic locus with 5 alleles. We found significant linkage disequilibrium (LD) between the following pairs of markers for males: DXS10103/DXS10101, DXS10135/DXS10146, DXS10101/DXS10148, DXS10135/DXS10148, DXS7423/DXS10148 and DXS10079/DXS10148. For females, LD was only observed for DXS10103/DXS10101. The combined power of discrimination was 0.9999999979699 for males and 0.999999999999998 for females. The numbers of observed haplotypes in Manchu males were 310, 172, 182 and 172 in four linkage groups LG1, LG2, LG3 and LG4, respectively, however, these linkage groups did not form stable haplotypes as indicated by linkage equilibrium (LE) of STRs within the groups and significant LD between the groups. This study represents an extensive report on X-STR marker variation in the Manchu population for forensic applications and population genetic studies.
Publisher: Elsevier BV
Date: 2013
Publisher: Informa UK Limited
Date: 06-02-2014
Publisher: Research Square Platform LLC
Date: 17-10-2023
Publisher: MDPI AG
Date: 03-02-2020
DOI: 10.20944/PREPRINTS202002.0004.V1
Abstract: The ability to predict physical characteristics from DNA presents significant opportunities for forensic science. Giving scientists an ability to make predictions about the donor of genetic material at a crime scene can then give investigators new intelligence leads for cold cases where DNA evidence has not identified any person of interest. However, the interpretation of this new form of intelligence requires careful analysis. The responses to an online survey, conducted in 2018-19, were used to examine how actors in the criminal justice system assess and interpret different types of DNA evidence and intelligence. The groups of focus for the survey were investigators, legal practitioners and the general public (as potential jurors). Several statistically significant effects were identified based on occupation and whether an in idual had prior exposure to new DNA technology. Monitoring how those involved in interpreting reports from different types of DNA evidence and intelligence interpret them helps to ensure that decisions are made based on a sound understanding of their capabilities and limitations and may inform broader training and awareness strategies.
Publisher: Elsevier BV
Date: 2022
DOI: 10.2139/SSRN.4141278
Publisher: Elsevier BV
Date: 11-2019
DOI: 10.1016/J.FSIGEN.2019.102141
Abstract: The use of microhaplotypes (MHs) for ancestry inference has added to an increasing number of ancestry-informative markers (AIMs) for forensic application that includes autosomal single nucleotide polymorphisms (SNPs) and insertions/deletions (indels). This study compares bi-allelic and tri-allelic SNPs as well as MH markers for their ability to differentiate African, European, South Asian, East Asian, and American population groups from the 1000 Genomes Phase 3 database. A range of well-established metrics were applied to rank each marker according to the population differentiation potential they measured. These comprised: absolute allele frequency differences (δ) Rosenberg's informativeness for (ancestry) assignment (I
Publisher: Elsevier BV
Date: 12-2019
Publisher: Elsevier BV
Date: 12-2020
Publisher: Informa UK Limited
Date: 02-01-2017
Publisher: Informa UK Limited
Date: 09-2000
Publisher: Informa UK Limited
Date: 06-2012
Publisher: Cold Spring Harbor Laboratory
Date: 15-10-2020
DOI: 10.1101/2020.10.14.340315
Abstract: DNA methylation plays a fundamental role in the control of gene expression and genome integrity. Although there are multiple tools that enable its detection from Nanopore sequencing, their accuracy remains largely unknown. Here, we present a systematic benchmarking of tools for the detection of CpG methylation from Nanopore sequencing using in idual reads, control mixtures of methylated and unmethylated reads, and bisulfite sequencing. We found that tools have a tradeoff between false positives and false negatives and present a high dispersion with respect to the expected methylation frequency values. We described various strategies to improve the accuracy of these tools, including a new consensus approach, METEORE ( omprna/METEORE ), based on the combination of the predictions from two or more tools that shows improved accuracy over in idual tools. Snakemake pipelines are also provided for reproducibility and to enable the systematic application of our analyses to other datasets.
Publisher: Elsevier BV
Date: 07-2019
Publisher: Elsevier BV
Date: 12-2015
DOI: 10.1016/J.FORSCIINT.2015.08.004
Abstract: Anthrax, caused by Bacillus anthracis, is a naturally occurring disease in Australia. Whilst mainly limited to livestock in grazing regions of Victoria and New South Wales, movement of people, stock and vehicles means B. anthracis could be present outside this region. Of particular interest is the "background" prevalence of B. anthracis at transport hubs including airports. The aim of this study was to determine the background frequency of B. anthracis and the commonly used hoax agent Bacillus thuringiensis at the Canberra Airport over a 12 month period. S les were collected daily for seven days each month from August 2011-July 2012 and analyzed using species specific real-time polymerase chain reaction. Fourteen s les (of a total of 575) were positive for the B. anthracis PL3 genomic marker, 24 for the cya (pXO1) plasmid marker and five for the capB (pXO2) plasmid marker. Whilst five s les were positive for both PL3 and cya, no s les were positive for all three markers hence there is no evidence to suggest the presence of pathogenic B. anthracis strains. B. anthracis targets were detected primarily in February 2012 and B. thuringiensis peaked in October and November 2011 and again in April and May 2012. This study provides a rapid method to screen for, and differentiate, Bacillus species. Armed with this information investigators will be able to discriminate a "threat" from "background" frequencies should the need arise.
Publisher: Cambridge University Press (CUP)
Date: 30-03-2023
DOI: 10.1017/S0954422423000069
Abstract: Social media data are rapidly evolving and accessible, which presents opportunities for research. Data science techniques, such as sentiment or emotion analysis which analyse textual emotion, provide an opportunity to gather insight from social media. This paper describes a systematic scoping review of interdisciplinary evidence to explore how sentiment or emotion analysis methods alongside other data science methods have been used to examine nutrition, food and cooking social media content. A PRISMA search strategy was used to search nine electronic databases in November 2020 and January 2022. Of 7325 studies identified, thirty-six studies were selected from seventeen countries, and content was analysed thematically and summarised in an evidence table. Studies were published between 2014 and 2022 and used data from seven different social media platforms (Twitter, YouTube, Instagram, Reddit, Pinterest, Sina Weibo and mixed platforms). Five themes of research were identified: dietary patterns, cooking and recipes, diet and health, public health and nutrition and food in general. Papers developed a sentiment or emotion analysis tool or used available open-source tools. Accuracy to predict sentiment ranged from 33·33% (open-source engine) to 98·53% (engine developed for the study). The average proportion of sentiment was 38·8% positive, 46·6% neutral and 28·0% negative. Additional data science techniques used included topic modelling and network analysis. Future research requires optimising data extraction processes from social media platforms, the use of interdisciplinary teams to develop suitable and accurate methods for the subject and the use of complementary methods to gather deeper insights into these complex data.
Publisher: Informa UK Limited
Date: 10-11-2007
Publisher: Springer Science and Business Media LLC
Date: 03-11-2016
DOI: 10.1007/S00414-015-1286-Z
Abstract: Disaster victim identification (DVI) often occurs in remote locations with extremes of temperatures and humidities. Access to mortuary facilities and refrigeration are not always available. An effective and robust DNA s ling and preservation procedure would increase the probability of successful DNA profiling and allow faster repatriation of bodies and body parts. If the act of tissue preservation also released DNA into solution, ready for polymerase chain reaction (PCR), the DVI process could be further streamlined. In this study, we explored the possibility of obtaining DNA profiles without DNA extraction, by adding aliquots of preservative solutions surrounding fresh human muscle and decomposing human muscle and skin tissue s les directly to PCR. The preservatives consisted of two custom preparations and two proprietary solutions. The custom preparations were a salt-saturated solution of dimethyl sulfoxide (DMSO) with ethylenediaminetetraacetic (EDTA) and TENT buffer (Tris, EDTA, NaCl, Tween 20). The proprietary preservatives were DNAgard (Biomatrica(®)) and Tissue Stabilising Kit (DNA Genotek). We obtained full PowerPlex(®) 21 (Promega) and GlobalFiler(®) (Life Technologies) DNA profiles from fresh and decomposed tissue preserved at 35 °C for up to 28 days for all four preservatives. The preservative aliquots removed from the fresh muscle tissue s les had been stored at -80 °C for 4 years, indicating that long-term archival does not diminish the probability of successful DNA typing. Rather, storage at -80 °C seems to reduce PCR inhibition.
Publisher: Informa UK Limited
Date: 22-01-2019
Publisher: Informa UK Limited
Date: 12-2013
Publisher: Wiley
Date: 10-2014
Abstract: High resolution melting (HRM) analysis is a simple, cost effective, closed tube SNP genotyping technique with high throughput potential. The effectiveness of HRM for forensic SNP genotyping was assessed with five commercially available HRM kits evaluated on the ViiA™ 7 Real Time PCR instrument. Four kits performed satisfactorily against forensically relevant criteria. One was further assessed to determine the sensitivity, reproducibility, and accuracy of HRM SNP genotyping. The manufacturer's protocol using 0.5 ng input DNA and 45 PCR cycles produced accurate and reproducible results for 17 of the 19 SNPs examined. Problematic SNPs had GC rich flanking regions which introduced additional melting domains into the melting curve (rs1800407) or included homozygotes that were difficult to distinguish reliably (rs16891982 a G to C SNP). A proof of concept multiplexing experiment revealed that multiplexing a small number of SNPs may be possible after further investigation. HRM enables genotyping of a number of SNPs in a large number of s les without extensive optimization. However, it requires more genomic DNA as template in comparison to SNaPshot®. Furthermore, suitably modifying pre-existing forensic intelligence SNP panels for HRM analysis may pose difficulties due to the properties of some SNPs.
Publisher: Elsevier BV
Date: 10-2005
DOI: 10.1016/J.FORSCIINT.2005.05.005
Abstract: A feasibility study of short tandem repeat (STR) genotyping of telogen phase hairs in particular, and hair shaft in general, is presented. A number of extraction procedures in common use were investigated and the quantities of nuclear DNA (nuDNA) delivered were quantified via a real-time PCR assay. The extracts were subjected to two variations on AmpFlSTR Profiler Plus PCR lification strategies (extended cycles, two rounds of PCR) and the genotypes compared. Nuclear DNA was found to persist in human hair shafts, albeit at very low levels. Full Profiler Plus profiles consistent with the hair donor were obtained from 100 mg hair shaft s les (bleached and unbleached). These were, however, mixed profiles, indicating low copy number (LCN) contamination in the extracts. Single telogen hair clubs and single hair shafts delivered partial profiles with usually only one allele of heterozygous loci. Telogen phase hairs yielded the same amount of nuDNA (and no more) as hair shafts (either anagen or telogen). Whether hair shafts dissolved or not in lysis buffer had no effect on either the quantitated yield of DNA or on the chance of obtaining a correct genotype. These results provide evidence that genomic DNA resides on the exterior of the hair shaft and we use this information to suggest an optimal procedure for nuDNA extraction from keratinised hair s les: soaking hairs in simple digestion buffers containing Tris-HCl, a salt and a chelating agent without prior cleaning of the hair shafts. It is proposed that cleaning removes most of the recoverable DNA. This procedure was applied to obtain genotypes from 3 cm hair shafts which matched reference profiles from the donors at up to 9 out of 10 AmpFlSTR Profiler Plus STR loci. When the genotyping success was measured by counting the number of matches between the two dominant alleles at each locus for each extract with the reference DNA profile of the hair donor, the success was found to be highly dependent on the donor. The number of matching alleles varied between not less than 10 for one donor to no more than two for another donor. These results may well be linked to the environmental experience of the hairs from each donor prior to removal.
Publisher: CSIRO Publishing
Date: 2006
DOI: 10.1071/FP06201
Abstract: Methods for determining carbon isotope discrimination, Δ, or kinetic isotope effects, α, for CO2-consuming enzymes have traditionally been cumbersome and time-consuming, requiring careful isolation of substrates and products and conversion of these to CO2 for measurement of isotope ratio by mass spectrometry (MS). An equation originally derived by Rayleigh in 1896 has been used more recently to good effect as it only requires measurement of substrate concentrations and isotope ratios. For carboxylation reactions such as those catalysed by d-ribulose-1,5-bisphosphate carboxylase / oxygenase (RuBisCO, EC 4.1.1.39) and PEP carboxylase (PEPC, EC 4.1.1.31), this has still required s ling of reactions at various states of completion and conversion of all inorganic carbon to CO2, as well as determining the amount of substrate consumed. We introduce a new method of membrane inlet MS which can be used to continuously monitor in idual CO2 isotope concentrations, rather than isotope ratio. This enables the use of a simplified, new formula for calculating kinetic isotope effects, based on the assumptions underlying the original Rayleigh fractionation equation and given by: -- The combination of inlet membrane MS and this formula yields measurements of discrimination in less than 1 h. We validate our method against previously measured values of discrimination for PEP carboxylase and RuBisCO from several species.
Publisher: Elsevier BV
Date: 10-2005
DOI: 10.1016/J.FORSCIINT.2005.05.006
Abstract: We present a review of the literature on procedures for obtaining short tandem repeat (STR) genotypes from keratinised hair, being either hair shaft or telogen phase (naturally shed) hairs without associated scalp, follicle or sheath cells. Both the hair shaft and the telogen hair club have been subjected to the DNA-degrading keratinisation process and are more likely to be found at a crime scene than anagen (plucked) or catagen phase hairs. We discuss human hair structure, the human hair growth cycle, the keratinisation process and their implications for DNA extraction procedures, PCR lification strategies and the interpretation of STR genotypes. Knowledge gaps and areas requiring research are identified and are the subject of a second article in this series.
Publisher: Informa UK Limited
Date: 29-03-2017
Publisher: Elsevier BV
Date: 11-2018
DOI: 10.1016/J.FSIGEN.2018.08.005
Abstract: We tested a panel of 13 highly polymorphic canine short tandem repeat (STR) markers for dog breed assignment using 392 dog s les from the 23 most popular breeds in Austria, Germany, and Switzerland. This STR panel had originally been selected for canine identification. The dog breeds s led in this study featured a population frequency ≥1% and accounted for nearly 57% of the entire pedigree dog population in these three countries. Breed selection was based on a survey comprising records for nearly 1.9 million purebred dogs belonging to more than 500 different breeds. To derive breed membership from STR genotypes, a range of algorithms were used. These methods included discriminant analysis of principal components (DAPC), STRUCTURE, GeneClass2, and the adegenet package for R. STRUCTURE analyses suggested 21 distinct genetic clusters. Differentiation between most breeds was clearly discernable. Fourteen of 23 breeds (61%) exhibited maximum mean cluster membership proportions of more than 0.70 with a highest value of 0.90 found for Cavalier King Charles Spaniels. Dogs of only 6 breeds (26%) failed to consistently show only one major cluster. The DAPC method yielded the best assignment results in all 23 declared breeds with 97.5% assignment success. The frequency-based assignment test also provided a high success rate of 87%. These results indicate the potential viability of dog breed prediction using a well-established and sensitive set of 13 canine STR markers intended for forensic routine use.
Publisher: Springer Science and Business Media LLC
Date: 18-05-2017
DOI: 10.1007/S12024-017-9874-5
Abstract: Single nucleotide polymorphisms (SNPs) have been widely used in forensics for prediction of identity, biogeographical ancestry (BGA) and externally visible characteristics (EVCs). Single base extension (SBE) assays, most notably SNaPshot® (Thermo Fisher Scientific), are commonly used for forensic SNP genotyping as they can be employed on standard instrumentation in forensic laboratories (e.g. capillary electrophoresis). High resolution melt (HRM) analysis is an alternative method and is a simple, fast, single tube assay for low throughput SNP typing. This study compares HRM and SNaPshot®. HRM produced reproducible and concordant genotypes at 500 pg, however, difficulties were encountered when genotyping SNPs with high GC content in flanking regions and differentiating variants of symmetrical SNPs. SNaPshot® was reproducible at 100 pg and is less dependent on SNP choice. HRM has a shorter processing time in comparison to SNaPshot®, avoids post PCR contamination risk and has potential as a screening tool for many forensic applications.
Publisher: Informa UK Limited
Date: 12-2007
Publisher: Elsevier BV
Date: 05-2018
DOI: 10.1016/J.FSIGEN.2018.03.005
Abstract: Forensic scientists around the world are adopting new technology platforms capable of efficiently analysing a larger proportion of the human genome. Undertaking this analysis could provide significant operational benefits, particularly in giving investigators more information about the donor of genetic material, a particularly useful investigative lead. Such information could include predicting externally visible characteristics such as eye and hair colour, as well as biogeographical ancestry. This article looks at the adoption of this new technology from a privacy perspective, using this to inform and critique the application of a Privacy Impact Assessment to this emerging technology. Noting the benefits and limitations, the article develops a number of themes that would influence a model Privacy Impact Assessment as a contextual framework for forensic laboratories and law enforcement agencies considering implementing forensic DNA phenotyping for operational use.
Publisher: Informa UK Limited
Date: 03-07-2019
Publisher: Ovid Technologies (Wolters Kluwer Health)
Date: 06-2017
Publisher: Oxford University Press (OUP)
Date: 17-10-2006
DOI: 10.1093/JXB/ERL156
Abstract: The forward and reverse rate constants involved in carbamylation, activation, carboxylation, and inhibition of D-ribulose-1,5-bisphosphate carboxylase/oxygenase (RuBisCO) have been estimated by a new technique of simultaneous non-linear regression of a differential equation kinetic model to multiple experimental data. Parameters predicted by the model fitted to data from purified spinach enzyme in vitro included binding affinity constants for non-substrate CO2 and Mg2+ of 200+/-80 microM and 700+/-200 microM, respectively, as well as a turnover number (k(cat)) of 3.3+/-0.5 s(-1), a Michaelis half-saturation constant for carboxylation (K(M,C)) of 10+/-4 microM and a Michaelis constant for RuBP binding (K(M,RuBP)) of 1.5+/-0.5 microM. These and other constants agree well with previously measured values where they exist. The model is then used to show that slow inactivation of RuBisCO (fallover) in oxygen-free conditions at low concentrations of CO2 and Mg2+ is due to decarbamylation and binding of RuBP to uncarbamylated enzyme. In spite of RuBP binding more tightly to uncarbamylated enzyme than to the activated form, RuBisCO is activated at high concentrations of CO2 and Mg2+. This apparent paradox is resolved by considering activation kinetics and the fact that while RuBP binds tightly but slowly to uncarbamylated enzyme, it binds fast and loosely to activated enzyme. This modelling technique is presented as a new method for determining multiple kinetic data simultaneously from a limited experimental data set. The method can be used to compare the properties of RuBisCO from different species quickly and easily.
Publisher: Cambridge University Press (CUP)
Date: 13-06-2016
DOI: 10.1017/THG.2016.45
Abstract: Hair diameter and curvature are two characteristics of human scalp hair used in forensic contexts. While previous data show that subjective categorization of hair curvature is highly heritable, the heritability of objectively measured curvature and diameter, and variability of hair characteristics within each in idual have not yet been studied. The present study measured hair diameter and curvature using an optical fiber diameter analyzer in a s le of 2,332 twins and siblings. Heritability was estimated using maximum likelihood structural equation modeling. Results show sex differences in the magnitude of genetic influence for mean diameter and curvature, with the vast majority of the variance accounted for by genetic effects in males (diameter = 86%, curvature = 53%) and females (diameter = 77%, curvature = 61%). The consistency of diameter (variance within an in idual) was also highly heritable, but did not show sex limitation, with 68% of the variance accounted for by genetic factors. Moderate phenotypic correlations were seen between diameter and consistency ( r = 0.3) but there was little correlation between diameter and curvature ( r = -0.13). A bivariate Cholesky analysis was used to estimate the genetic and environmental correlations between hair diameter and consistency, yielding genetic correlations of r gF = 0.27 for females and r gM = 0.25 for males.
Publisher: Frontiers Media SA
Date: 06-08-2020
Publisher: Informa UK Limited
Date: 19-11-2016
Publisher: Wiley
Date: 23-04-2023
DOI: 10.1002/WFS2.1484
Abstract: The resolution of unidentified human remains (UHR) and long‐term missing persons (LTMP) cases is paramount for administrative, legal, and humanitarian reasons. There are various forensic profiling methods for human identification however, their utility is dependent on several factors. First, UHR can be found in different stages of decomposition, so the availability and ersity of post‐mortem (PM) information will differ. Second, the availability and totality of the LTMP's ante‐mortem (AM) information will differ. Therefore, the suitability of existing methods will be dependent on the quality and quantity of PM and/or AM data available for comparison. Visual recognition is the simplest and quickest method, but typically not practiced or possible, owing to the altered, fragmented, or skeletonized state of UHR. Primary forensic profiling methods involve the comparison of fingerprint, dental, DNA, and medical data. Secondary forensic profiling methods from anthropology, radiology, geochemistry, and anatomy disciplines can provide supplementary evidence to support comparative identification approaches. Emerging forensic molecular technologies such as genomics, microbiomics, epigenetics, and proteomics, together with in idual digital footprints from personal devices, offer new investigative leads for establishing identity. However, despite the success of these in idual methods, their limitations must be considered when used in isolation. Through the development of a guiding forensic examination framework, this review endorses an interdisciplinary response to unidentified and missing persons investigations, where various forensic specialists collaboratively examine UHR using a suite of contemporary forensic profiling methods to produce multiple and/or different lines of evidence to link them effectively, efficiently, comprehensively, and systematically to LTMP. This article is categorized under: Forensic Science in Action/Crime Scene Investigation Special Situations and Investigations Forensic Biology DNA Testing in Disaster Victim and Missing Persons Identification Forensic Medicine Medicolegal Death Investigation Systems Jurisprudence and Regulatory Oversight Interdisciplinary Collaboration
Publisher: Springer Science and Business Media LLC
Date: 08-08-2014
DOI: 10.1007/S00414-014-1055-4
Abstract: Genetic markers included in forensic identity panels must exhibit Hardy-Weinberg and linkage equilibrium (HWE and LE). "Universal" panels designed for global use can fail these tests in regional jurisdictions exhibiting high levels of genetic differentiation such as the Indonesian archipelago. This is especially the case where a single DNA database is required for allele frequency estimates to calculate random match probabilities (RMPs) and associated likelihood ratios (LRs). A panel of 65 single nucleotide polymorphisms (SNPs) and a reduced set of 52 SNPs have been selected from 15 Indonesian subpopulations in the HUGO Pan Asian SNP database using a SNP selection strategy that could be applied to any panel of forensic identity markers. The strategy consists of four screening steps: (1) application of a G test for HWE (2) ranking for high heterozygosity (3) selection for LE and (4) selection for low inbreeding depression. SNPs in our Indonesian panel perform well in comparison to some other universal SNP and short tandem repeat (STR) panels as measured by Fisher's exact test for HWE and LE and Wright's F statistics.
Publisher: Springer Science and Business Media LLC
Date: 26-12-2017
DOI: 10.1007/S12024-016-9824-7
Abstract: Yersinia pestis is a biological agent of high risk to national security due to its ability to be easily disseminated and transmitted among humans. If Y. pestis was to be utilized in a deliberate disease outbreak it would be essential to rapidly and accurately identify the agent. Current identification methods for Yersinia species are limited by their reliance on cultivation, the time taken to achieve results and/or the use of protocols that are not amenable for field use. Faster identification methods are urgently required. Microfluidic capillary electrophoresis was used to identify seven Yersinia species based on their protein profiles. Further objectives included determining if Yersinia species could be detected in mixtures of milk products and Escherichia coli, determining if Yersinia could be detected in a blinded identification and reproducibility across two platforms. Two characteristic protein bands were detected at 50 kilodaltons (kDa) and between 50 and 75 kDa for the Yersinia species. In idual Yersinia species could be differentiated from one another and distinguished from E. coli, Bacillus anthracis Sterne strain and Dipel (containing Bacillus thuringiensis). Due to the high protein content of milk products Yersinia could not be detected when mixed with these but was detected when mixed with E. coli. Species were correctly identified with 96% success in blinded procedures using 12 in iduals. Whilst protein profile patterns were reproducible across platforms there was some discrepancy in protein sizing. This study demonstrates that protein profiling using microfluidic capillary electrophoresis is able to rapidly and reproducibly identify and characterize Yersinia species. Results show this technique is a powerful front-line, rapid and broad range screening method capable of identifying and differentiating biological agents, hoax agents and environmental bacterial species.
Publisher: Springer Science and Business Media LLC
Date: 10-07-2023
DOI: 10.1007/S00216-023-04822-4
Abstract: Accurate estimation of the postmortem interval (PMI) is crucial in forensic medico-legal investigations to understand case circumstances (e.g. narrowing down list of missing persons or include/exclude suspects). Due to the complex decomposition chemistry, estimation of PMI remains challenging and currently often relies on the subjective visual assessment of gross morphological/taphonomic changes of a body during decomposition or entomological data. The aim of the current study was to investigate the human decomposition process up to 3 months after death and propose novel time-dependent biomarkers (peptide ratios) for the estimation of decomposition time. An untargeted liquid chromatography tandem mass spectrometry–based bottom-up proteomics workflow (ion mobility separated) was utilized to analyse skeletal muscle, collected repeatedly from nine body donors decomposing in an open eucalypt woodland environment in Australia. Additionally, general analytical considerations for large-scale proteomics studies for PMI determination are raised and discussed. Multiple peptide ratios (human origin) were successfully proposed (subgroups 200 accumulated degree days (ADD), 655 ADD and 1535 ADD) as a first step towards generalised, objective biochemical estimation of decomposition time. Furthermore, peptide ratios for donor-specific intrinsic factors (sex and body mass) were found. Search of peptide data against a bacterial database did not yield any results most likely due to the low abundance of bacterial proteins within the collected human biopsy s les. For comprehensive time-dependent modelling, increased donor number would be necessary along with targeted confirmation of proposed peptides. Overall, the presented results provide valuable information that aid in the understanding and estimation of the human decomposition processes. Graphical Abstract
Publisher: Elsevier BV
Date: 11-2018
DOI: 10.1016/J.FSIGEN.2018.08.016
Abstract: DNA profiling has emerged as the gold standard for the identification of victims in mass disaster events providing an ability to identify victims, reassociate remains and provide investigative leads at a relatively low cost, and with a high degree of discrimination. For the majority of s les, DNA-based identification can be achieved in a fast, streamlined and high-throughput manner. However, a large number of remains will be extremely compromised, characteristic of mass disasters. Advances in technology and in the field of forensic biology have increased the options for the collection, s ling, preservation and processing of s les for DNA profiling. Furthermore, recent developments now allow a vast array of new genetic markers and genotyping techniques to extract as much genetic information from a s le as possible, ensuring that identification is not only accurate but also possible where material is degraded, or limited. Where historically DNA profiling has involved comparison with ante mortem s les or relatives, now DNA profiling can direct investigators towards putative victims or relatives, for comparison through the determination of externally visible characteristics, or biogeographical ancestry. This paper reviews the current and emerging tools available for maximising the recovery of genetic information from post mortem s les in a disaster victim identification context.
Publisher: Elsevier BV
Date: 2015
DOI: 10.1016/J.FSIGEN.2014.08.013
Abstract: Forensic phenotyping can provide useful intelligence regarding the biogeographical ancestry (BGA) and externally visible characteristics (EVCs) of the donor of an evidentiary s le. Currently, single nucleotide polymorphism (SNP) based inference of BGA and EVCs is performed most commonly using SNaPshot(®), a single base extension (SBE) assay. However, a single SNaPshot multiplex PCR is limited to 30-40 SNPs. Next generation sequencing (NGS) offers the potential to genotype hundreds to thousands of SNPs from multiple s les in a single experimental run. The PCR multiplexes from five SNaPshot assays (SNPforID 52plex, SNPforID 34plex, Eurasiaplex, IrisPlex and an unpublished BGA assay) were applied to three different DNA template amounts (0.1, 0.2 and 0.3 ng) in three s les (9947A and 007 control DNAs and a male donor). The pooled PCR licons containing 136 unique SNPs were sequenced using Life Technologies' Ion Torrent™ PGM system. Approximately 72 Mb of sequence was generated from two 10 Mb Ion 314™ v1 chips. Accurate genotypes were readily obtained from all three template amounts. Of a total of 408 genotypes, 395 (97%) were fully concordant with SNaPshot across all three template amounts. Of those genotypes discordant with SNaPshot, six Ion Torrent sequences (1.5%) were fully concordant with Sanger sequencing across the three template amounts. Seven SNPs (1.7%) were either discordant between template amounts or discordant with Sanger sequencing. Sequence coverage observed in the negative control, and, allele coverage variation for heterozygous genotypes highlights the need to establish a threshold for background levels of sequence output and heterozygous balance. This preliminary study of the Ion Torrent PGM system has demonstrated considerable potential for use in forensic DNA analyses as a low to medium throughput NGS platform using established SNaPshot assays.
Publisher: Informa UK Limited
Date: 21-07-2021
Publisher: MDPI AG
Date: 21-10-2021
DOI: 10.3390/FORENSICSCI1030014
Abstract: Advances in forensic biology have increased the options for the collection, s ling, preservation and processing of human remains for DNA-based identification. Combined with a plethora of commercial DNA testing kits that are far more forgiving of inhibited and degraded s les, efficient DNA approaches to post-mortem s les are explored here for DNA-based identification of compromised human remains. Approaches which preserve s le and reduce analytical turnaround times whilst saving resources also have the potential to expedite the identification process, to provide answers to grieving families sooner, or to provide leads in a criminal investigation. Targeting s le types that are minimally-invasive and do not require extensive preparation and testing protocols also has benefit for disaster victim identification (DVI) by facilitating field s ling. We have assessed minimally-invasive and simple to collect s le types compatible with minimal pre-treatment and efficient DNA profiling approaches. Incubating nail, distal phalanges and whole digits in 500 µL of PrepFiler™ Lysis Buffer for 2 h was an efficient and simple method, limiting or removing s le preparation. A reduced 15 min incubation also yielded DNA profiles suggesting a shorter incubation may lyse sufficient DNA. Preservative solutions offer an even simpler process in some cases. Furthermore, the efficient approaches described in this study offer storage solutions and are compatible with backend automated processing. This study will inform further research to develop and optimise efficient protocols. These DNA approaches should not be pursued for every s le more compromised s les may best be submitted to the laboratory for more effective extraction and genotyping.
Publisher: Elsevier BV
Date: 05-1998
Publisher: MDPI AG
Date: 10-06-2021
DOI: 10.3390/FORENSICSCI1010006
Abstract: Continuous probabilistic genotyping (PG) systems are becoming the default method for calculating likelihood ratios (LRs) for competing propositions about DNA mixtures. Calculation of the LR relies on numerical methods and simultaneous probabilistic simulations of multiple variables rather than on analytical solutions alone. Some also require modelling of in idual laboratory processes that give rise to electropherogram artefacts and peak height variance. For these reasons, it has been argued that any LR produced by continuous PG is unique and cannot be compared with another. We challenge this assumption and demonstrate that there are a set of conditions defining specific DNA mixtures which can produce an aspirational LR and thereby provide a measure of reproducibility for DNA profiling systems incorporating PG. Such DNA mixtures could serve as the basis for inter-laboratory comparisons, even when different STR lification kits are employed. We propose a procedure for an inter-laboratory comparison consistent with these conditions.
Publisher: Informa UK Limited
Date: 02-01-2016
Publisher: Elsevier BV
Date: 06-2022
Publisher: Informa UK Limited
Date: 25-04-2017
Publisher: Elsevier BV
Date: 09-2018
DOI: 10.1016/J.FSIGEN.2018.06.013
Abstract: Estimation of ancestral affiliation for human genotypes is now possible for major geographic populations and has been employed for forensic casework. Prediction algorithms, such as the Snipper Bayesian classifier, have the ability to classify non-admixed BGA in African (AFR), European (EUR), East Asian (EAS), and most Amerindian (NAM) in iduals, but are not always appropriate for admixed in iduals. Artificial admixture was simulated for all possible admixture ratios (1:1, 3:1, 2:1:1, and 1:1:1:1) from four grandparents. The simulated genotypes were used to test the accuracy of various prediction algorithms, most successful of which were the population genetics program, STRUCTURE, and a novel genetic distance algorithm (GDA). STRUCTURE was ideal for admixed in iduals with 1:1 and 3:1 ratios from AFR, EUR, EAS, and NAM reference populations. In iduals with 1:1:1:1 BGA proportions were more accurately predicted by GDA. The use of hypothetical root genotypes improved the accuracy of GDA predictions for 1:1 and 3:1 admixtures and STRUCTURE classification of 1:1:1:1 admixture. The GDA requires only allele or genotype frequency values from each reference population, which offers a simpler s ling and input formatting procedure than is required by STRUCTURE. It can also be implemented in a spreadsheet without the need for long run times.
Publisher: Springer Science and Business Media LLC
Date: 03-11-2020
DOI: 10.1038/S41598-020-76016-2
Abstract: Phylogenetic relationship and the population structure of 500 in iduals from the Christian community of Lahore, Pakistan, were examined based on 15 autosomal short tandem repeats (STRs) using the AmpFℓSTR Identifiler Plus PCR Amplification Kit and our previously published Y-filer kit data (17 Y-STRs) of same s les. A total of 147 alleles were observed in 15 loci and allele 11 at the TPOX locus was the most frequent with frequency value (0.464). The data revealed that the Christian population has unique genetic characteristics with respect to a few unusual alleles and their frequencies relative to the other Pakistani population. Significant deviations from Hardy–Weinberg equilibrium were found at two loci (D13S317, D18S51) after Boneferroni’s correction ( p ≤ 0.003). The combined power of discrimination, combined power of exclusion and cumulative probability of matching were 0.999999999999999978430815060354, 0.999995039393942 and 2.15692 × 10 −17 , respectively. On the bases of genetic distances, PCA, phylogenetic and structure analysis Lahore-Christians appeared genetically more associated to south Asian particularly Indian populations like Tamil, Karnataka, Kerala and Andhra Pradesh than rest of global populations.
Publisher: Springer Science and Business Media LLC
Date: 24-11-2021
DOI: 10.1007/S00414-021-02748-Z
Abstract: In 2019 and 2020, disaster victim identification (DVI) simulations were conducted at the Australian Facility for Taphonomic Experimental Research. Whole and fragmented cadavers were positioned to replicate a building collapse scenario and left to decompose for up to 4 weeks. This study evaluated the utility of the ANDE™ 6C Rapid DNA System and the RapidHIT
Publisher: Apple Academic Press
Date: 29-01-2021
Publisher: Elsevier BV
Date: 2013
Publisher: Informa UK Limited
Date: 29-01-2019
Publisher: Springer Science and Business Media LLC
Date: 20-12-2017
DOI: 10.1007/S00414-016-1504-3
Abstract: DNA can provide forensic intelligence regarding a donor's biogeographical ancestry (BGA) and other externally visible characteristics (EVCs). A number of algorithms have been proposed to assign in idual human genotypes to a BGA using ancestry informative marker (AIM) panels. This study compares the BGA assignment accuracy of the population clustering program STRUCTURE and three generic classification approaches including a Bayesian algorithm, genetic distance, and multinomial logistic regression (MLR). A selection of 142 ancestry informative single nucleotide polymorphisms (SNPs) were chosen from existing marker panels (SNPforID 34-plex, Eurasiaplex, Seldin, and Kidd's AIM panels) to assess BGA classification at the continental level for Africans, Europeans, East Asians, and Amerindians. A training set of 1093 in iduals with self-declared BGA from the 1000 Genomes phase 1 database was used by each classifier to predict BGA in a test set of 516 in iduals from the HGDP-CEPH (Stanford) cell line panel. Tests were repeated with 0, 10, 50, 70, and 90% of the genotypes missing. Comparison of the area under the receiver operating characteristic curves (AUROCs) showed high accuracy in STRUCTURE and the generic Bayesian approach. The latter algorithm offers a computationally simpler alternative to STRUCTURE with little loss in accuracy and is suitable for phenotype prediction while STRUCTURE is not.
Publisher: MDPI AG
Date: 07-10-2021
DOI: 10.3390/FORENSICSCI1030011
Abstract: ABAcard® HemaTrace® kits have been used for crime scene stains for confirmation of human blood for many years. However, when the stain is too small to allow for separate testing, confirmatory testing may be forgone to preference DNA analysis. This can lead to court challenges as to the biological source and therefore probative value of the DNA profile. This research aimed to develop a protocol for DNA analysis of a minute blood stain subsequent to HemaTrace® testing. Stains were collected and subjected to HemaTrace® testing. Swabs were then removed from the HemaTrace® buffer solution and processed. DNA yields and STR DNA profiles were analysed for both quantity and quality. Full profiles were reliably obtained from stains with diameters of 0.6 mm–0.7 mm, reflecting DNA concentrations between 0.0036 ng/μL and 0.007 ng/μL, varying according to substrate characteristics. However, stains below a diameter of 0.6 mm should proceed directly for DNA profiling. This protocol was also successfully performed on blood stains which had undergone UV irradiation, although use of the reporting peak height threshold (lower than the routine analytical threshold) was required to obtain useable profiles. We have been able to demonstrate a protocol which, with minor adjustments to crime scene procedures, allows for both the confirmation of the presence of human blood, together with the generation of useful DNA profiles.
Publisher: Springer New York
Date: 2016
DOI: 10.1007/978-1-4939-3597-0_4
Abstract: As well as protecting DNA for subsequent analysis, tissue preservation methods ideally should be safe, readily available, and easy to transport at relatively low cost. Formalin (formaldehyde solution), used extensively to preserve medical and museum specimens, irreparably damages DNA. We have found four tissue preservatives (solid salt, salt-saturated dimethyl sulfoxide (DMSO)-EDTA solution, ethanol solution, and ethanol-EDTA solution) that preserved muscle tissue at 35 °C for up to 1 month: full short tandem repeat (STR) profiles were obtained after preservation. In addition, salt-saturated DMSO-EDTA solution yielded full STR profiles from aliquots of the liquid preservative surrounding muscle tissue.
Publisher: Informa UK Limited
Date: 03-2023
Publisher: Elsevier BV
Date: 09-2019
DOI: 10.1016/J.FSIGEN.2019.06.022
Abstract: Current forensic ancestry-informative panels are limited in their ability to differentiate populations in the Asia-Pacific region. MAPlex (Multiplex for the Asia-Pacific), a massively parallel sequencing (MPS) assay, was developed to improve differentiation of East Asian, South Asian and Near Oceanian populations found in the extensive cross-continental Asian region that shows complex patterns of admixture at its margins. This study reports the development of MAPlex the selection of SNPs in combination with microhaplotype markers assay design considerations for reducing the lengths of microhaplotypes while preserving their ancestry-informativeness adoption of new population-informative multiple-allele SNPs compilation of South Asian-informative SNPs suitable for forensic AIMs panels and the compilation of extensive reference and test population genotypes from online whole-genome-sequence data for MAPlex markers. STRUCTURE genetic clustering software was used to gauge the ability of MAPlex to differentiate a broad set of populations from South and East Asia, the West Pacific regions of Near Oceania, as well as the other globally distributed population groups. Preliminary assessment of MAPlex indicates enhanced South Asian differentiation with increased ergence between West Eurasian, South Asian and East Asian populations, compared to previous forensic SNP panels of comparable scale. In addition, MAPlex shows efficient differentiation of Middle Eastern in iduals from Europeans. MAPlex is the first forensic AIM assay to combine binary and multiple-allele SNPs with microhaplotypes, adding the potential to detect and analyze mixed source forensic DNA.
Publisher: American Physical Society (APS)
Date: 08-02-2010
Publisher: Informa UK Limited
Date: 05-07-2020
Publisher: Elsevier BV
Date: 11-2018
DOI: 10.1016/J.FORSCIINT.2018.09.013
Abstract: Bayesian interpretation of forensic evidence has become dominated by the likelihood ratio (LR) with a large LR generally considered favourable to the prosecution hypothesis, H
Publisher: IWA Publishing
Date: 2000
Abstract: Currently the accepted practice for swine wastewater disposal is lagoon stabilisation followed by land application. This disposal method can exacerbate odour emissions and contribute to soil contamination and eutrophication of waterways. Intensification of the pig industry has increased the impact of in idual piggeries this combined with tightening legislation is causing the pig industry in Australia to look at alternative treatment methods. A pilot scale sequencing batch reactor (SBR) was built to treat piggery wastewater. It achieved NH4+ and odour reductions of greater than 99% as well as 79% removal of COD and a 49% reduction of PO43−on a mass balance basis. The reactor experienced problems with foaming for the first 2 months of operation, which was controlled with vegetable oil until the foaming stopped. Struvite formation also occurred within the reactor and influent pipes but it was calculated that sufficient nutrients were removed to prevent precipitation down stream of the SBR.
Publisher: Elsevier BV
Date: 12-1998
Start Date: 2009
End Date: 06-2009
Amount: $550,000.00
Funder: Australian Research Council
View Funded ActivityStart Date: 07-2011
End Date: 12-2015
Amount: $196,692.00
Funder: Australian Research Council
View Funded ActivityStart Date: 10-2008
End Date: 12-2011
Amount: $207,762.00
Funder: Australian Research Council
View Funded ActivityStart Date: 02-2009
End Date: 02-2010
Amount: $230,000.00
Funder: Australian Research Council
View Funded Activity