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  • 1.
    Albinsson, Linda
    et al.
    Swedish National Laboratory of Forensic Science (SKL), Linköping, Sweden.
    Norén, Lina
    Swedish National Laboratory of Forensic Science (SKL), Linköping, Sweden.
    Hedell, Ronny
    Swedish National Laboratory of Forensic Science (SKL), Linköping, Sweden.
    Ansell, Ricky
    Linköpings universitet, Institutionen för fysik, kemi och biologi, Molekylär genetik. Linköpings universitet, Tekniska högskolan.
    Swedish population data and concordance for the kits PowerPlexÒ ESX 16 System, PowerPlexÒ ESI 16 System, AmpFlSTRÒ NGMTM, AmpFlSTRÒ SGM PlusTM and Investigator ESSplex2011Inngår i: Forensic Science International: Genetics, ISSN 1872-4973, E-ISSN 1878-0326, Vol. 5, nr 3, s. e89-e92Artikkel i tidsskrift (Annet vitenskapelig)
    Abstract [en]

    The European Standard Set of loci (ESS) has been extended with five additional short tandem repeat (STR) loci following the recommendations of the European Network of Forensic Science Institutes (ENFSI) and the European DNA Profiling Group (EDNAP) to increase the number of loci routinely used by the European forensic community. Subsequently, a new extended Swedish population database, based on 425 individuals, has been assembled using the new STR multiplex kits commercially available.

    Allele frequencies and statistical parameters of forensic interest for 15 autosomal STR loci (D3S1358, TH01, D21S11, D18S51, D10S1248, D1S1656, D2S1338, D16S539, D22S1045, vWA, D8S1179, FGA, D2S441, D12S391 and D19S433) were obtained from the analysis of the PowerPlex® ESX 16 System kit (Promega Corporation, USA). According to the data no evidence of deviations from Hardy–Weinberg equilibrium was found. The observed heterozygosity varies between 0.755 (TH01) and 0.892 (D1S1656). The power of discrimination was smallest for D22S1045 (0.869) and largest for D1S1656 (0.982) while the power of exclusion was smallest for TH01 (0.518) and largest for D1S1656 (0.778).

    A concordance study was performed on the five amplification systems: PowerPlex® ESX 16 System, PowerPlex® ESI 16 System (Promega Corporation, USA), AmpFlSTR® NGM™, AmpFlSTR® SGM Plus™ (Applied Biosystems, USA) and Investigator ESSplex (Qiagen, Germany) to reveal null alleles and other divergences between the kits. For the 425 DNA profiles included, AmpFlSTR® NGM™ revealed two null alleles, AmpFlSTR® SGM Plus™ revealed one, and Investigator ESSplex revealed a micro-variant, while the rest of the alleles showed full concordance between the kits tested.

  • 2.
    Chaitanya, Lakshmi
    et al.
    Erasmus MC University Medical Centre Rotterdam, The Netherlands.
    Walsh, Susan
    Erasmus MC University Medical Centre Rotterdam, The Netherlands.
    Dyrberg Andersen, Jeppe
    University of Copenhagen, Denmark.
    Ansell, Ricky
    Swedish National Laboratory of Forensic Science (SKL), Linköping, Sweden.
    Ballantyne, Kaye
    Forensic Services Department, Victoria Police, Macleod, Victoria, Australia.
    Ballard, David
    School of Biomedical Sciences, King's College London, UK.
    Banemann, Regine
    Kriminaltechnik, Bundeskriminalamt, Wiesbaden, Germany.
    Maria Bauer, Christiane
    Innsbruck Medical University, Austria.
    Margarida Bento, Ana
    Instituto Nacional de Medicina Legal, Coimbra, Portugal.
    Brisighelli, Francesca
    Università Cattolica del Sacro Cuore, Rome, Italy.
    Capal, Tomas
    Institute of Criminalistics, Prague, Czech Republic.
    Clarisse, Lindy
    Netherlands Forensic Institute, The Hague, The Netherlands.
    Gross, Theresa E.
    University of Cologne, Germany.
    Haas, Cordula
    University of Zurich, Switzerland.
    Hoff-Olsen, Per
    Norwegian Institute of Public Health, Oslo, Norway.
    Hollard, Clémence
    Université de Strasbourg, Institut de Médecine Légale, France.
    Keyser, Christine
    Université de Strasbourg, Institut de Médecine Légale, France.
    Kiesler, Kevin M.
    National Institute of Standards and Technology, Gaithersburg, MD, USA.
    Kohler, Priscila
    Norwegian Institute of Public Health, Oslo, Norway.
    Kupiec, Tomasz
    Institute of Forensic Research, Kraków, Poland.
    Linacre, Adrian
    Flinders University, Adelaide, South Australia, Australia.
    Minawi, Anglika
    Kriminaltechnik, Bundeskriminalamt, Wiesbaden, Germany.
    Morling, Niels
    University of Copenhagen, Denmark.
    Nilsson, Helena
    National Board of Forensic Medicine, Linköping, Sweden.
    Norén, Lina
    Swedish National Laboratory of Forensic Science (SKL), Linköping, Sweden.
    Ottens, Renée
    Flinders University, Adelaide, South Australia, Australia.
    Palo, Jukka U.
    University of Helsinki, Finland.
    Parson, Walther
    Innsbruck Medical University, Austria.
    Pascali, Vincenzo L.
    Università Cattolica del Sacro Cuore, Rome, Italy.
    Philips, Chris
    University of Santiago de Compostela, Spain.
    João Porto, Maria
    Instituto Nacional de Medicina Legal, Coimbra, Portugal.
    Sajantila, Antti
    University of Helsinki, Finland.
    Schneider, Peter M.
    University of Cologne, Germany.
    Sijen, Titia
    Netherlands Forensic Institute, The Hague, The Netherlands.
    Söchtig, Jens
    University of Santiago de Compostela, Spain.
    Syndercombe-Court, Denise
    School of Biomedical Sciences, King's College London, UK.
    Tillmar, Andreas
    National Board of Forensic Medicine, Linköping, Sweden.
    Turanska, Martina
    Institute of Forensic Science, Slovenská Lupca, Slovakia.
    Vallone, Peter M.
    National Institute of Standards and Technology, Gaithersburg, MD, USA.
    Zatkalíková, Lívia
    Institute of Forensic Science, Slovenská Lupca, Slovakia.
    Zidkova, Anastassiya
    Charles University in Prague and General University Hospital in Prague, Czech Republic.
    Branicki, Wojciech
    Institute of Forensic Research, Kraków, Poland.
    Kayser, Manfred
    Erasmus MC University Medical Centre Rotterdam, The Netherlands.
    Collaborative EDNAP exercise on the IrisPlex system for DNA based prediction of human eye colour2014Inngår i: Forensic Science International: Genetics, ISSN 1872-4973, E-ISSN 1878-0326, Vol. 11, s. 241-251Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    The IrisPlex system is a DNA-based test system for the prediction of human eye colour from biological samples and consists of a single forensically validated multiplex genotyping assay together with a statistical prediction model that is based on genotypes and phenotypes from thousands of individuals. IrisPlex predicts blue and brown human eye colour with, on average, >94% precision accuracy using six of the currently most eye colour informative single nucleotide polymorphisms (HERC2 rs12913832, OCA2 rs1800407, SLC24A4 rs12896399, SLC45A2 (MATP) rs16891982, TYR rs1393350, and IRF4 rs12203592) according to a previous study, while the accuracy in predicting non-blue and non-brown eye colours is considerably lower. In an effort to vigorously assess the IrisPlex system at the international level, testing was performed by 21 laboratories in the context of a collaborative exercise divided into three tasks and organised by the European DNA Profiling (EDNAP) Group of the International Society of Forensic Genetics (ISFG). Task 1 involved the assessment of 10 blood and saliva samples provided on FTA cards by the organising laboratory together with eye colour phenotypes; 99.4% of the genotypes were correctly reported and 99% of the eye colour phenotypes were correctly predicted. Task 2 involved the assessment of 5 DNA samples extracted by the host laboratory from simulated casework samples, artificially degraded, and provided to the participants in varying DNA concentrations. For this task, 98.7% of the genotypes were correctly determined and 96.2% of eye colour phenotypes were correctly inferred. For Tasks 1 and 2 together, 99.2% (1875) of the 1890 genotypes were correctly generated and of the 15 (0.8%) incorrect genotype calls, only 2 (0.1%) resulted in incorrect eye colour phenotypes. The voluntary Task 3 involved participants choosing their own test subjects for IrisPlex genotyping and eye colour phenotype inference, while eye photographs were provided to the organising laboratory and judged; 96% of the eye colour phenotypes were inferred correctly across 100 samples and 19 laboratories. The high success rates in genotyping and eye colour phenotyping clearly demonstrate the reproducibility and the robustness of the IrisPlex assay as well as the accuracy of the IrisPlex model to predict blue and brown eye colour from DNA. Additionally, this study demonstrates the ease with which the IrisPlex system is implementable and applicable across forensic laboratories around the world with varying pre-existing experiences.

  • 3.
    Foreberg, Christina
    et al.
    Swedish National Forensic Centre, Linköping, Sweden.
    Jansson, Linda
    Applied Microbiology, Department of Chemistry, Lund University, Lund, Sweden.
    Ansell, Ricky
    Linköpings universitet, Institutionen för fysik, kemi och biologi, Biologi. Linköpings universitet, Tekniska fakulteten. Swedish National Forensic Centre, Linköping, Sweden.
    Hedman, Johannes
    Swedish National Forensic Centre, Linköping, Sweden, Applied Microbiology, Department of Chemistry, Lund University, Lund, Sweden.
    High-throughput DNA extraction of forensic adhesive tapes2016Inngår i: Forensic Science International: Genetics, ISSN 1872-4973, E-ISSN 1878-0326, Vol. 24, s. 158-163Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    Tape-lifting has since its introduction in the early 2000's become a well-established sampling method in forensic DNA analysis. Sampling is quick and straightforward while the following DNA extraction is more challenging due to the "stickiness", rigidity and size of the tape. We have developed, validated and implemented a simple and efficient direct lysis DNA extraction protocol for adhesive tapes that requires limited manual labour. The method uses Chelex beads and is applied with SceneSafe FAST tape. This direct lysis protocol provided higher mean DNA yields than PrepFiler Express BTA on Automate Express, although the differences were not significant when using clothes worn in a controlled fashion as reference material (p=0.13 and p=0.34 for T-shirts and button-down shirts, respectively). Through in-house validation we show that the method is fit-for-purpose for application in casework, as it provides high DNA yields and amplifiability, as well as good reproducibility and DNA extract stability. After implementation in casework, the proportion of extracts with DNA concentrations above 0.01ng/μL increased from 71% to 76%. Apart from providing higher DNA yields compared with the previous method, the introduction of the developed direct lysis protocol also reduced the amount of manual labour by half and doubled the potential throughput for tapes at the laboratory. Generally, simplified manual protocols can serve as a cost-effective alternative to sophisticated automation solutions when the aim is to enable high-throughput DNA extraction of complex crime scene samples.

  • 4.
    Hedell, Ronny
    et al.
    Swedish National Laboratory of Forensic Science (SKL), Linköping, Sweden; Chalmers University of Technology and University of Gothenburg, Sweden .
    Dufva, Charlotte
    Swedish National Laboratory of Forensic Science (SKL), Linköping, Sweden .
    Ansell, Ricky
    Linköpings universitet, Institutionen för fysik, kemi och biologi, Biologi. Linköpings universitet, Tekniska högskolan. Swedish National Laboratory of Forensic Science (SKL), Linköping, Sweden .
    Mostad, Petter
    Linköpings universitet, Institutionen för fysik, kemi och biologi. Linköpings universitet, Tekniska högskolan. Chalmers University of Technology and University of Gothenburg, Sweden.
    Hedman, Johannes
    Swedish National Laboratory of Forensic Science (SKL), Linköping, Sweden; Lund University, Sweden .
    Enhanced low-template DNA analysis conditions and investigation of allele dropout patterns2015Inngår i: Forensic Science International: Genetics, ISSN 1872-4973, E-ISSN 1878-0326, Vol. 14, s. 61-75Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    Forensic DNA analysis applying PCR enables profiling of minute biological samples. Enhanced analysis conditions can be applied to further push the limit of detection, coming with the risk of visualising artefacts and allele imbalances. We have evaluated the consecutive increase of PCR cycles from 30 to 35 to investigate the limitations of low-template (LT) DNA analysis, applying the short tandem repeat (STR) analysis kit PowerPlex ESX 16. Mock crime scene DNA extracts of four different quantities (from around 8–84 pg) were tested. All PCR products were analysed using 5, 10 and 20 capillary electrophoresis (CE) injection seconds. Bayesian models describing allele dropout patterns, allele peak heights and heterozygote balance were developed to assess the overall improvements in EPG quality with altered PCR/CE settings. The models were also used to evaluate the impact of amplicon length, STR marker and fluorescent label on the risk for allele dropout.

    The allele dropout probability decreased for each PCR cycle increment from 30 to 33 PCR cycles. Irrespective of DNA amount, the dropout probability was not affected by further increasing the number of PCR cycles. For the 42 and 84 pg samples, mainly complete DNA profiles were generated applying 32 PCR cycles. For the 8 and 17 pg samples, the allele dropouts decreased from 100% using 30 cycles to about 75% and 20%, respectively. The results for 33, 34 and 35 PCR cycles indicated that heterozygote balance and stutter ratio were mainly affected by DNA amount, and not directly by PCR cycle number and CE injection settings. We found 32 and 33 PCR cycles with 10 CE injection seconds to be optimal, as 34 and 35 PCR cycles did not improve allele detection and also included CE saturation problems.

    We find allele dropout probability differences between several STR markers. Markers labelled with the fluorescent dyes CXR-ET (red in electropherogram) and TMR-ET (shown as black) generally have higher dropout risks compared with those labelled with JOE (green) and fluorescein (blue). Overall, the marker D10S1248 has the lowest allele dropout probability and D8S1179 the highest. The marker effect is mainly pronounced for 30–32 PCR cycles. Such effects would not be expected if the amplification efficiencies were identical for all markers. Understanding allele dropout risks and the variability in peak heights and balances is important for correct interpretation of forensic DNA profiles.

  • 5.
    Kling, Daniel
    et al.
    Norwegian Institute Public Heatlh, Norway; Norwegian University of Life Science, Norway.
    DellAmico, Barbara
    National Board Forens Med, Department Forens Genet and Forens Toxicol, SE-58758 Linkoping, Sweden.
    Tillmar, Andreas
    Linköpings universitet, Institutionen för klinisk och experimentell medicin, Avdelningen för mikrobiologi och molekylär medicin. Linköpings universitet, Medicinska fakulteten. National Board Forens Med, Department Forens Genet and Forens Toxicol, SE-58758 Linkoping, Sweden.
    FamLinkX - implementation of a general model for likelihood computations for X-chromosomal marker data2015Inngår i: Forensic Science International: Genetics, ISSN 1872-4973, E-ISSN 1878-0326, Vol. 17Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    The use of genetic markers located on the X chromosome has seen a significant increase in the last years and their utility has been well studied. This paper describes the software FamLinkX, freely available at http://www.famlink.se, implementing a new algorithm for likelihood computations accounting for linkage, linkage disequilibrium and mutations. It is obvious that such software is sought for among forensic users as more and more X-chromosomal markers become available. We provide some simulated examples demonstrating the utility of the implementation as well as its application in forensic casework. Though algebraic derivations are generally unfeasible, the paper outlines some theoretical considerations and provides a discussion on the validation of the software. The focus of this paper is to compare the software to existing methods in a forensic setting, perform a validation study as well as to provide an idea of the discriminatory power for X-chromosomal markers. (C) 2015 Elsevier Ireland Ltd. All rights reserved.

  • 6.
    Kling, Daniel
    et al.
    Norwegian Institute Public Heatlh, Norway; Norwegian University of Life Science, Norway.
    Tillmar, Andreas O.
    Linköpings universitet, Institutionen för klinisk och experimentell medicin, Avdelningen för mikrobiologi och molekylär medicin. Linköpings universitet, Hälsouniversitetet. National Board Forens Med, Department Forens Genet and Forens Toxicol, Linkoping, Sweden.
    Egeland, Thore
    Norwegian University of Life Science, Norway; Norwegian Institute Public Heatlh, Norway.
    Familias 3-Extensions and new functionality2014Inngår i: Forensic Science International: Genetics, ISSN 1872-4973, E-ISSN 1878-0326, Vol. 13, s. 121-127Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    In relationship testing the aim is to determine the most probable pedigree structure given genetic marker data for a set of persons. Disaster Victim Identification (DVI) based on DNA data from presumed relatives of the missing persons can be considered to be a collection of relationship problems. Forensic calculations in investigative mode address questions like "How many markers and reference persons are needed? Such questions can be answered by simulations. Mutations, deviations from Hardy-Weinberg Equilibrium (or more generally, accounting for population substructure) and silent alleles cannot be ignored when evaluating forensic evidence in case work. With the advent of new markers, so called microvariants have become more common. Previous mutation models are no longer appropriate and a new model is proposed. This paper describes methods designed to deal with DVI problems and a new simulation model to study distribution of likelihoods. There are softwares available, addressing similar problems. However, for some problems including DVI, we are not aware of freely available validated software. The Familias software has long been widely used by forensic laboratories worldwide to compute likelihoods in relationship scenarios, though previous versions have lacked desired functionality, such as the above mentioned. The extensions as well as some other novel features have been implemented in the new version, freely available at www.familias.no. The implementation and validation are briefly mentioned leaving complete details to Supplementary sections.

  • 7.
    Kling, Daniel
    et al.
    National Board for Forensic Medicine.
    Welander, Jenny
    Linköpings universitet, Institutionen för klinisk och experimentell medicin, Cellbiologi. Linköpings universitet, Hälsouniversitetet.
    Tillmar, Andreas
    National Board for Forensic Medicine.
    Skare, Oivind
    Norwegian Institute Public Heatlh.
    Egeland, Thore
    Norwegian University of Life Science.
    Holmlund, Gunilla
    Linköpings universitet, Institutionen för klinisk och experimentell medicin. Linköpings universitet, Hälsouniversitetet.
    DNA microarray as a tool in establishing genetic relatedness-Current status and future prospects2012Inngår i: Forensic Science International: Genetics, ISSN 1872-4973, E-ISSN 1878-0326, Vol. 6, nr 3, s. 322-329Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    In the past decades, microarray technology has definitely put an edge to the field of genetic research. Our aim was to determine whether single nucleotide polymorphism (SNP) microarrays could be used as a tool in establishing genetic relationships where current molecular genetic methods are not sufficient. We used the Genechip, Affymetrix GenomeWide SNP Array 6.0, which detects more than 900,000 SNP markers dispersed throughout the human genome. The intention was to find a good selection of SNP markers that could be used for statistical evaluation of relatedness in a forensic setting. We conducted pairwise comparisons in the R-package FEST as well as pedigree comparisons in Merlin. Our methods were applied on two separate families, where relationships as distant as 3rd cousins were known. In addition, a question about a possible common ancestry between the two families was tested. Relationships as distant as 2nd cousins could be readily distinguished both from unrelated and other, genetically, closer relationships. This was achieved with a selection of 5774 markers, where each pair of markers was separated by a genetic distance of at least 0.5 cM (centiMorgan). When considering 3rd cousins, and more distant relationships, the number of markers needs to be extended, consequently decreasing the genetic distance between the markers. However, inclusion of a too large number of markers presents new challenges and our results imply that the use of too dense sets of markers always yields the highest probability for the genetically closest relationship hypothesis. Simulations confirm that this is most probably caused by the fact that the computational model assumes linkage equilibrium between markers, a problem that will be further evaluated. Our results do however suggest that SNP-data derived from microarrays are well suited for kinship determination provided linkage disequilibrium is properly accounted for.

  • 8.
    Kokshoorn, Bas
    et al.
    Division Biological Traces, Netherlands Forensic Institute, The Hague, the Netherlands.
    Aarts, Lambertus H.J.
    Division Biological Traces, Netherlands Forensic Institute, The Hague, the Netherlands.
    Ansell, Ricky
    Linköpings universitet, Institutionen för fysik, kemi och biologi, Biologi. Linköpings universitet, Tekniska fakulteten. Swedish National Forensic Centre, Sweden;Department of Physics, Chemistry and Biology (IFM), Linköping University, Linköping, Sweden.
    Connolly, Edward
    Forensic Science Ireland, Garda HQ, Phoenix Park, Ireland.
    Drotz, Weine
    Swedish National Forensic Centre, Linköping, Sweden.
    Kloosterman, Ate D.
    Division Biological Traces, Netherlands Forensic Institute, The Hague, the Netherlands.
    McKenna, Louise G.
    Forensic Science Ireland, Garda HQ, Ireland.
    Szkuta, Bianca
    Office of the Chief Forensic Scientist, Victoria Police Forensic Services Department, Australia;School of Life and Environmental Sciences, Deakin University, Australia .
    van Oorschot, Roland A.H.
    Office of the Chief Forensic Scientist, Victoria Police Forensic Services Department, Australia;School of Molecular Sciences, La Trobe University, Australia.
    Sharing data on DNA transfer, persistence, prevalence and recovery: Arguments for harmonization and standardization2018Inngår i: Forensic Science International: Genetics, ISSN 1872-4973, E-ISSN 1878-0326, Vol. 37, s. 260-269Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    Sharing data between forensic scientists on DNA transfer, persistence, prevalence and recovery (TPPR) is crucial to advance the understanding of these issues in the criminal justice community. We present the results of a collaborative exercise on reporting forensic genetics findings given activity level propositions. This exercise outlined differences in the methodology that was applied by the participating laboratories, as well as limitations to the use of published data on DNA TPPR. We demonstrate how publication of experimental results in scientific journals can be further improved to allow for an adequate use of these data. Steps that can be taken to share and use these data for research and casework purposes are outlined, and the prospects for future sharing of data through publicly accessible databases are discussed. This paper also explores potential avenues to proceed with implementation and is intended to fuel the discussion on sharing data pertaining to DNA TPPR issues. It is further suggested that international standardization and harmonization on these topics will benefit the forensic DNA community as it has been achieved in the past with the harmonization of STR typing systems.

  • 9.
    Montelius, Kerstin
    et al.
    National Board of Forensic Medicine, Linköping, Sweden.
    Karlsson, Andreas O
    National Board of Forensic Medicine, Linköping, Sweden.
    Holmlund, Gunilla
    National Board of Forensic Medicine, Linköping, Sweden.
    STR data for the AmpFlSTR Identifiler loci from Swedish population in comparison to European, as well as with non-European population2008Inngår i: Forensic Science International: Genetics, ISSN 1872-4973, E-ISSN 1878-0326, Vol. 2, nr 3, s. e49-e52Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    The modern Swedish population is a mixture of people that originate from different parts of the world. This is also the truth for the clients participating in the paternity cases investigated at the department. Calculations based on a Swedish frequency database only, could give us overestimated figures of probability and power of exclusion in cases including clients with a genetic background other than Swedish. Here, we describe allele frequencies regarding the markers in the Identifiler-kit. We have compared three sets of population samples; Swedish, European and non-European to investigate how these three groups of population samples differ. Also, all three population sets were compared to data reported from other European and non-European populations.

    Swedish allele frequencies for the 15 autosomal STRs included in the Identifiler kit were obtained from unrelated blood donors with Swedish names. The European and non-European frequencies were based on DNA-profiles of alleged fathers from our paternity cases in 2005 and 2006.

  • 10.
    Steensma, Kristy
    et al.
    Netherlands Forens Institute, Netherlands.
    Ansell, Ricky
    Linköpings universitet, Institutionen för fysik, kemi och biologi, Biologi. Linköpings universitet, Tekniska fakulteten. Swedish National Forens Centre, SE-58194 Linkoping, Sweden.
    Clarisse, Lindy
    Netherlands Forens Institute, Netherlands.
    Connolly, Edward
    Forens Science Ireland, Ireland.
    Kloosterman, Ate D.
    Netherlands Forens Institute, Netherlands; University of Amsterdam, Netherlands.
    McKenna, Louise G.
    Forens Science Ireland, Ireland.
    van Oorschot, Roland A. H.
    Victoria Police Forens Serv Department, Australia.
    Szkuta, Bianca
    Victoria Police Forens Serv Department, Australia; Deakin University, Australia.
    Kokshoorn, Bas
    Netherlands Forens Institute, Netherlands.
    An inter-laboratory comparison study on transfer, persistence and recovery of DNA from cable ties2017Inngår i: Forensic Science International: Genetics, ISSN 1872-4973, E-ISSN 1878-0326, Vol. 31, s. 95-104Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    To address questions on the activity that led to the deposition of biological traces in a particular case, general information on the probabilities of transfer, persistence and recovery of cellular material in relevant scenarios is necessary. These figures may be derived from experimental data described in forensic literature when conditions relevant to the case were included. The experimental methodology regarding sampling, DNA extraction, DNA typing and profile interpretation that were used to generate these published data may differ from those applied in the case and thus the applicability of the literature data may be questioned. To assess the level of variability that different laboratories obtain when similar exhibits are analysed, we performed an inter-laboratory study between four partner laboratories. Five sets of 20 cable ties bound by different volunteers were distributed to the participating laboratories and sampled and processed according to the in-house protocols. Differences were found for the amount of retrieved DNA, as well as for the reportability and composition of the DNA profiles. These differences also resulted in different probabilities of transfer, persistence and recovery for each laboratory. Nevertheless, when applied to a case example, these differences resulted in similar assignments of weight of evidence given activity-level propositions.

  • 11.
    Tillmar, Andreas
    et al.
    Linköpings universitet, Hälsouniversitetet. Linköpings universitet, Institutionen för klinisk och experimentell medicin, Rättsgenetik.
    Egeland, Thore
    University of Oslo, Institute of Forensic Medicine, Oslo, Norway.
    Lindblom, Bertil
    Linköpings universitet, Institutionen för klinisk och experimentell medicin, Rättsgenetik. Linköpings universitet, Hälsouniversitetet.
    Holmlund, Gunilla
    Linköpings universitet, Hälsouniversitetet. Linköpings universitet, Institutionen för klinisk och experimentell medicin, Rättsgenetik.
    Mostad, Petter
    Mathematical Sciences, Chalmers University of Technology, and Mathematical Sciences Göteborg University, Göteborg, Sweden.
    Using X-chromosomal markers in relationship testing: How to calculate likelihood ratios taking linkage and linkage disequilibrium into account2011Inngår i: Forensic Science International: Genetics, ISSN 1872-4973, E-ISSN 1878-0326, Vol. 5, nr 5, s. 506-511Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    X-chromosomal markers in forensic genetics have become more widely used during the recent years, particularly for relationship testing. Linkage and linkage disequilibrium (LD) must typically be accounted for when using close X-chromosomal markers. Thus, when producing the weight-of-evidence, given by a DNA-analysis with markers that are linked, the normally used product rule is invalid. Here we present an efficient model for calculating likelihood ratio (LR) with markers on the X-chromosome which are linked and in LD. Furthermore, the model was applied on several cases based on data from the eight X-chromosomal loci included in the Mentype® Argus X-8 (Biotype). Using a simulation approach we showed that the use of X-chromosome data can offer valuable information for choosing between the alternatives in each of the cases we studied, and that the LR can be high in several cases. We demonstrated that when linkage and LD were disregarded, as opposed to taken into account, the difference in calculated LR could be considerable. When these differences were large, the estimated haplotype frequencies often had a strong impact and we present a method to estimate haplotype frequencies. Our conclusion is that linkage and LD should be accounted for when using the tested set of markers, and the presented model is an efficient way of doing so.

  • 12.
    Tillmar, Andreas
    et al.
    Linköpings universitet, Institutionen för klinisk och experimentell medicin, Avdelningen för mikrobiologi och molekylär medicin. Linköpings universitet, Medicinska fakulteten. National Board Forens Med, Department Forens Genet and Forens Toxicol, Artillerigatan 12, SE-58758 Linkoping, Sweden.
    Kling, Daniel
    Oslo University Hospital, Norway.
    Butler, John M.
    NIST, MD 20899 USA.
    Parson, Walther
    Medical University of Innsbruck, Austria; Penn State University, PA 16802 USA.
    Prinz, Mechthild
    John Jay Coll Criminal Justice, NY USA.
    Schneider, Peter M.
    University of Cologne, Germany.
    Egeland, Thore
    Norwegian University of Life Science, Norway.
    Gusmao, Leonor
    State University of Rio de Janeiro UERJ, Brazil.
    DNA Commission of the International Society for Forensic Genetics ( ISFG): Guidelines on the use of X-STRs in kinship analysis2017Inngår i: Forensic Science International: Genetics, ISSN 1872-4973, E-ISSN 1878-0326, Vol. 29, s. 269-275Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    Forensic genetic laboratories perform an increasing amount of genetic analyses of the X chromosome, in particular to solve complex cases of kinship analysis. For some biological relationships X-chromosomal markers can be more informative than autosomal markers, and there are a large number of markers, methods and databases that have been described for forensic use. Due to their particular mode of inheritance, and their physical location on a single chromosome, some specific considerations are required when estimating the weight of evidence for X-chromosomal marker DNA data. The DNA Commission of the International Society for Forensic Genetics (ISFG) hereby presents guidelines and recommendations for the use of X-chromosomal markers in kinship analysis with a special focus on the biostatistical evaluation. Linkage and linkage disequilibrium (association of alleles) are of special importance for such evaluations and these concepts and the implications for likelihood calculations are described in more detail. Furthermore it is important to use appropriate computer software that accounts for linkage and linkage disequilibrium among loci, as well as for mutations. Even though some software exist, there is still a need for further improvement of dedicated software. (C) 2017 Elsevier B.V. All rights reserved.

  • 13.
    Tillmar, Andreas O
    et al.
    Department of Forensic Genetics and Forensic Toxicology, National Board of Forensic Medicine, Linköping, Sweden.
    Bäckström, Gerd
    Department of Forensic Genetics and Forensic Toxicology, National Board of Forensic Medicine, Linköping, Sweden.
    Montelius, Kerstin
    Department of Forensic Genetics and Forensic Toxicology, National Board of Forensic Medicine, Linköping, Sweden.
    Genetic variation of 15 autosomal STR loci in a Somali population2009Inngår i: Forensic Science International: Genetics, ISSN 1872-4973, E-ISSN 1878-0326, Vol. 4, nr 1, s. E17-E18Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    Allele frequencies for 15 autosomal STR loci included in the AmpFlSTR Identifiler kit (CSF1PO, D13S317, D16S539, D18S51, D19S433, D21S11, D2S1338, D3S1358, D5S818, D7S820, D8S1179, FGA, TH01, TPOX, VWA) were obtained from the analysis of 404 individuals with Somali origin. The overall match probability for the 15 studied loci was 1 in 1.18 X 10(17) and the combined power of exclusion was 0.999997676. Deviation from Hardy-Weinberg equilibrium was observed for locus D2S1338 after correction for multiple testing. When comparing allele frequencies with five other African populations (Karamoja (Uganda), Mozambique, Tanzania and two other Somali population sample sets), only the Somali populations did not show significant differences for any of the tested loci.

  • 14.
    Tillmar, Andreas O.
    et al.
    Linköpings universitet, Institutionen för klinisk och experimentell medicin, Avdelningen för mikrobiologi och molekylär medicin. Linköpings universitet, Hälsouniversitetet. National Board Forens Med, Department Forens Genet and Forens Toxicol, Linkoping, Sweden.
    Mostad, Petter
    University of Gothenburg, Sweden; Norwegian University of Life Science, Norway.
    Choosing supplementary markers in forensic casework2014Inngår i: Forensic Science International: Genetics, ISSN 1872-4973, E-ISSN 1878-0326, Vol. 13, s. 128-133Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    The vast majority of human familial identifications based on DNA end up with a well founded conclusion, normally using a standard set of genetic short tandem repeat (STR) loci. There are, however, a proportion of cases that show ambiguous results. For such occasions a number of different supplementary markers could be typed in order to gain further information. There are numerous markers available for such supplementary DNA typing, including STRs, deletion and insertion polymorphisms (DIPs), and single nucleotide polymorphisms (SNPs). The purpose of this work was to describe a precise method for decision making, aiming to aid the comparison of different sets of markers for different case scenarios in order to find the most efficient set for routine casework. Comparisons are based on a particular function relating the expected additional value of information from new data to the amount of information already obtained from initial data. The function can be computed approximately by approximating likelihood-based error rates using simulation. In this paper we focused on paternity investigations, more specifically the use of supplementary markers in cases where a smaller number of genetic inconsistencies make the matter inconclusive. We applied the method to a comparison of three different kits: Investigator HDplex (STRs), Investigator DIPplex (DIPs), and the SNPforID-plex (SNPs) to study their efficiencies in gaining information in different case scenarios involving various alternative relationships between the tested man and the tested child. We show that the Investigator HDplex was the most efficient set of supplementary markers for the standard paternity case. However, for paternity cases with a close relative being the alternative father, the Investigator HDplex and the SNPforID-plex showed similar patterns in their ability to deliver a well-founded conclusion. The Investigator DIPplex was the least efficient set.

  • 15.
    Tillmar, Andreas O.
    et al.
    Natl Board Forens Med, Dept Forens Genet and Forens Toxicol, Linkoping, Sweden .
    Nilsson, Helena
    Natl Board Forens Med, Dept Forens Genet and Forens Toxicol, Linkoping, Sweden .
    Kling, Daniel
    Norwegian Institute Public Heatlh, Norway Norwegian University of Life Science, Norway .
    Montelius, Kerstin
    Linköpings universitet, Institutionen för klinisk och experimentell medicin. Linköpings universitet, Hälsouniversitetet.
    Letter: Analysis of Investigator HDplex markers in Swedish and Somali populations2013Inngår i: Forensic Science International: Genetics, ISSN 1872-4973, E-ISSN 1878-0326, Vol. 7, nr 1, s. E21-E22Artikkel i tidsskrift (Annet vitenskapelig)
    Abstract [en]

    n/a

  • 16.
    Tillmar, Andreas
    et al.
    Linköpings universitet, Institutionen för klinisk och experimentell medicin, Avdelningen för mikrobiologi och molekylär medicin. Linköpings universitet, Medicinska fakulteten. National Board Forens Med, Department Forens Genet and Forens Toxicol, Artillerigatan 12, SE-58758 Linkoping, Sweden.
    Phillips, Chris
    University of Santiago Compostela, Spain.
    Evaluation of the impact of genetic linkage in forensic identity and relationship testing for expanded DNA marker sets2017Inngår i: Forensic Science International: Genetics, ISSN 1872-4973, E-ISSN 1878-0326, Vol. 26, s. 58-65Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    Advances in massively parallel sequencing technology have enabled the combination of a much-expanded number of DNA markers (notably STRs and SNPs in one or combined multiplexes), with the aim of increasing the weight of evidence in forensic casework. However, when data from multiple loci on the same chromosome are used, genetic linkage can affect the final likelihood calculation. In order to study the effect of linkage for different sets of markers we developed the biostatistical tool ILIR, (Impact of Linkage on forensic markers for Identity and Relationship tests). The ILIR tool can be used to study the overall impact of genetic linkage for an arbitrary set of markers used in forensic testing. Application of ILIR can be useful during marker selection and design of new marker panels, as well as being highly relevant for existing marker sets as a way to properly evaluate the effects of linkage on a case-by-case basis. ILIR, implemented via the open source platform R, includes variation and genomic position reference data for over 40 STRs and 140 SNPs, combined with the ability to include additional forensic markers of interest. The use of the software is demonstrated with examples from several different established marker sets (such as the expanded CODIS core loci) including a review of the interpretation of linked genetic data. (C) 2016 Elsevier Ireland Ltd. All rights reserved.

  • 17.
    Tomas, C
    et al.
    University of Copenhagen.
    Axler-DiPerte, G
    New York City Off Chief Med Examiner.
    Budimlija, Z M
    New York City Off Chief Med Examiner.
    Borsting, C
    University Copenhagen.
    Coble, M D
    Armed Forces Institute of Pathology.
    Decker, A E
    US Natl Institute Stand and Technology.
    Eisenberg, A
    University of North Texas Human Identification.
    Fang, R
    Appl Biosyst Inc.
    Fondevila, M
    University Santiago de Compostela.
    Frisk Fredslund, S
    University Copenhagen.
    Gonzalez, S
    University of North Texas Human Identification.
    Hansen, A J
    University Copenhagen.
    Hoff-Olsen, P
    University of Oslo.
    Haas, C
    University of Zurich.
    Kohler, P
    University of Oslo.
    Kriegel, A K
    University Hospital, Cologne.
    Lindblom, Bertil
    Linköpings universitet, Institutionen för klinisk och experimentell medicin, Rättsgenetik. Linköpings universitet, Hälsouniversitetet.
    Manohar, F
    Appl Biosyst Inc.
    Maronas, O
    University Santiago de Compostela.
    Mogensen, H S
    University Copenhagen.
    Neureuther, K
    Fed Criminal Police Off, Wiesbaden.
    Nilsson, H
    National Board for Forensic Medicine.
    Scheible, M K
    Armed Forces Institute of Pathology.
    Schneider, P M
    University Hospital, Cologne.
    Sonntag, M L
    Fed Criminal Police Off, Wiesbaden.
    Stangegaard, M
    University Copenhagen.
    Syndercombe-Court, D
    Barts and London Queen Marys School of Medicine and Dentistry.
    Thacker, C R
    Barts and London Queen Marys School of Medicine and Dentistry.
    Vallone, P M
    US Natl Institute Stand and Technology.
    Westen, A A
    Netherlands Forensic Institute.
    Morling, N
    University Copenhagen.
    Autosomal SNP typing of forensic samples with the GenPlex (TM) HID System: Results of a collaborative study2011Inngår i: Forensic Science International: Genetics, ISSN 1872-4973, E-ISSN 1878-0326, Vol. 5, nr 5, s. 369-375Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    The GenPlex (TM) HID System (Applied Biosystems - AB) offers typing of 48 of the 52 SNPforID SNPs and amelogenin. Previous studies have shown a high reproducibility of the GenPlex (TM) HID System using 250500 pg DNA of good quality. An international exercise was performed by 14 laboratories (9 in Europe and 5 in the US) in order to test the robustness and reliability of the GenPlex (TM) HID System on forensic samples. Three samples with partly degraded DNA and 10 samples with low amounts of DNA were analyzed in duplicates using various amounts of DNA. In order to compare the performance of the GenPlex (TM) HID System with the most commonly used STR kits, 500 pg of partly degraded DNA from three samples was typed by the laboratories using one or more STR kits. The median SNP typing success rate was 92.3% with 500 pg of partly degraded DNA. Three of the fourteen laboratories counted for more than two thirds of the locus dropouts. The median percentage of discrepant results was 0.2% with 500 pg degraded DNA. An increasing percentage of locus dropouts and discrepant results were observed when lower amounts of DNA were used. Different success rates were observed for the various SNPs. The rs763869 SNP was the least successful. With the exception of the MiniFiler (TM) kit (AB), GenPlex (TM) HID performed better than five other tested STR kits. When partly degraded DNA was analyzed, GenPlex (TM) HID showed a very low mean mach probability, while all STR kits except MiniFiler (TM) had very limited discriminatory power.

  • 18.
    Toom, Victor
    et al.
    Goethe University of Frankfurt, Germany.
    Wienroth, Matthias
    Northumbria University, England.
    Mcharek, Amade
    University of Amsterdam, Netherlands.
    Prainsack, Barbara
    Kings Coll London, England.
    Williams, Robin
    Northumbria University, England.
    Duster, Troy
    UC Berkeley Sociol, CA USA.
    Heinemann, Torsten
    University of Hamburg, Germany.
    Kruse, Corinna
    Linköpings universitet, Institutionen för tema, Tema teknik och social förändring. Linköpings universitet, Filosofiska fakulteten.
    Machado, Helena
    University of Coimbra, Portugal.
    Murphy, Erin
    NYU, NY 10003 USA.
    Letter: Approaching ethical, legal and social issues of emerging forensic DNA phenotyping (FDP) technologies comprehensively: Reply to Forensic DNA phenotyping: Predicting human appearance from crime scene material for investigative purposes by Manfred Kayser in FORENSIC SCIENCE INTERNATIONAL-GENETICS, vol 22, issue , pp E1-E42016Inngår i: Forensic Science International: Genetics, ISSN 1872-4973, E-ISSN 1878-0326, Vol. 22, s. E1-E4Artikkel i tidsskrift (Annet vitenskapelig)
    Abstract [en]

    n/a

  • 19.
    Welch, L. A.
    et al.
    University of Strathclyde, Glasgow, United Kingdom.
    Gill, P.
    Norwegian Institute of Public Health, Oslo, Norway and University of Oslo, Norway .
    Phillips, C.
    University of Santiago de Compostela, Spain.
    Ansell, Ricky
    Swedish National Laboratory of Forensic Science, Sweden.
    Morling, N.
    University of Copenhagen, Denmark.
    Parson, W.
    Innsbruck Medical University, Austria.
    Palo, J. U.
    University of Helsinki, Finland.
    Bastisch, I.
    Bundeskriminalamt, Germany.
    European Network of Forensic Institutes (ENFSI): Evaluation of new commercial STR multiplexes that include the European standard set (ESS) of markers2012Inngår i: Forensic Science International: Genetics, ISSN 1872-4973, E-ISSN 1878-0326, Vol. 6, nr 6, s. 819-826Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    To support and to underpin the European initiative to increase the European set of standard markers (ESS), by the addition of five new loci, a collaborative project was organised by the European Network of Forensic Science Institutes (ENFSI) DNA working group in order to assess the new multiplex kits available. We have prepared allele frequency databases from 26 EU populations. Concordance studies were carried out to verify that genotyping results were consistent between kits. Population genetics studies were conducted and it was estimated that F(ST)<0.001. The results showed that the kits were comparable to each other in terms of performance and major discrepancy issues were highlighted. We provide details of allele frequencies for each of the populations analysed per laboratory.

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