Publikasjoner
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Bleka, Øyvind; González-Bao, J.; Puente, M. de la & Gill, Peter
(2026).
Improved deconvolution of sequenced based mixtures by extending EuroForMix.
Forensic Science International: Genetics.
ISSN 1872-4973.
84.
doi:
10.1016/j.fsigen.2026.103479.
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Bleka, Øyvind; Vigeland, Magnus Dehli & Gill, Peter
(2025).
EFMex: Using EuroForMix to evaluate DNA mixtures with multiple persons of interest.
Forensic Science International: Genetics.
ISSN 1872-4973.
81,
s. 1–11.
doi:
10.1016/j.fsigen.2025.103365.
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Taylor, Duncan; Volgin, Luke; Gill, Peter & Kokshoorn, Bas
(2025).
Accounting for inter-laboratory DNA recovery data variability when performing evaluations given activities.
Forensic Science International: Genetics.
ISSN 1872-4973.
78,
s. 1–12.
doi:
10.1016/j.fsigen.2025.103283.
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A large, recently published, inter-laboratory study by the ReAct group has shown that there is considerable variability in DNA recovery that exists between forensic laboratories. The presence of this inter-laboratory variability presents issues when one laboratory wishes to carry out an evaluation and needs to use the data produced by another laboratory. One option proposed by the ReAct group is for laboratories to carry out a calibration exercise so that appropriate adjustments between laboratories can be made. This will address some issues, but leave others unanswered, such as how to make use of the decades of transfer and persistence data that has already been published. In this work we present a method to utilise data produced in other laboratories (whether it provides DNA amounts or a probability of transfer) that takes into account inter-laboratory variability within an evaluation. This will allow evaluations to continue, without calibration data, and ensures that the strength of findings is appropriately represented. In this paper we discuss complicating factors with the various ways in which previous data has been reported, and their limitations in supporting probability assignments when carrying out an evaluation. We show that a combination of producing calibration information for new data (as suggested by the ReAct group) and development of strategies where calibration data is not available will provide the best way forward in the field of evaluations given activities.
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Gill, Peter; Fonneløp, Ane Elida; Hicks, Tacha; Xenophontos, Stavroulla; Cariolou, Marios & Oorschot, Roland van
[Vis alle 55 forfattere av denne artikkelen]
(2025).
The ReAct project: Analysis of data from 23 different laboratories to characterise DNA recovery given two sets of activity level propositions.
Forensic Science International: Genetics.
ISSN 1872-4973.
76.
doi:
10.1016/j.fsigen.2025.103222.
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The ReAct (Recovery, Activity) project is an ENFSI (European Network of Forensic Science Institutes) supported initiative comprising a large consortium of laboratories. Here, the results from more than 23 laboratories are presented. The primary purpose was to design experiments simulating typical casework circumstances; collect data and to implement Bayesian networks to assess the value (i.e., likelihood ratio) of DNA results given activity level propositions. Two different experimental designs were used to simulate a robbery, where a screwdriver was used to force a door or window. Propositions and case information were chosen following laboratory feedback listing typical casework circumstances (included in the paper). In a direct transfer experiment, the defendant owned and used the screwdriver, but he did not force the door/window in question. An unknown person used the defendant’s stolen screwdriver. In an indirect transfer experiment, the defendant neither owned, saw, nor used the screwdriver, nor did they force the door or window. For the second experiment, given the defence view, the defendant never held the screwdriver. We envisaged the situation where an object manipulated by the defendant (or the defendant himself/herself) would be touched by the unknown offender who would then force the window. It was found for the direct transfer experiment that unless a single contributor profile aligning with the known person’s of interest profile was retrieved, the results did not allow to discriminate between propositions. On the other hand, for the indirect transfer experiment, both single and major contributor profiles that aligned with the person of interest (POI) supported the proposition that the person used the tool rather than an unknown person who had touched an object, when indeed the former was true. There was considerable variation in median recoveries of DNA between laboratories (between 200pg–5ng) for a given experiment if quantities are taken into account. These differences affect the likelihood ratios given activity level propositions. More than 2700 samples were analysed in the course of this study. Two different Bayesian Networks are made available via an open source application written in Shiny R: Shiny_React(). For comparison, all datasets were analysed using a qualitative method categorised into absent, single, major or other given contributors. The importance of standardising methods is emphasised, alongside the necessity of developing new approaches to assign the probability of laboratory-dependent DNA recovery. Freely accessible open databases play a crucial role in supporting these efforts
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Goray, Mariya; Taylor, Duncan; Bibbo, Emily; Fantinato, Chiara; Fonneløp, Ane Elida & Gill, Peter
[Vis alle 7 forfattere av denne artikkelen]
(2024).
Emerging use of air eDNA and its application to forensic investigations – A review.
Electrophoresis.
ISSN 0173-0835.
45(9-10),
s. 916–932.
doi:
10.1002/elps.202300228.
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Biological material is routinely collected at crime scenes and from exhibits and is a key type of evidence during criminal investigations. Improvements in DNA technologies allow collection and profiling of trace samples, comprised of few cells, significantly expanding the types of exhibits targeted for DNA analysis to include touched surfaces. However, success rates from trace and touch DNA samples tend to be poorer compared to other biological materials such as blood. Simultaneously, there have been recent advances in the utility of environmental DNA collection (eDNA) in identification and tracking of different biological organisms and species from bacteria to naked mole rats in different environments, including, soil, ice, snow, air and aquatic. This paper examines the emerging methods and research into eDNA collection, with a special emphasis on the potential forensic applications of human DNA collection from air including challenges and further studies required to progress implementation.
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Fantinato, Chiara; Gill, Peter & Fonneløp, Ane Elida
(2024).
Investigative use of human environmental DNA in forensic genetics.
Forensic Science International: Genetics.
ISSN 1872-4973.
70,
s. 1–12.
doi:
10.1016/j.fsigen.2024.103021.
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Individuals leave behind traces of their DNA wherever they go. DNA can be transferred to surfaces and items upon touch, can be released into the air, and may be deposited in indoor dust. The mere presence of individuals in a location is sufficient to facilitate either direct or indirect DNA transfer into the surrounding environment. In this study, we analyzed samples recovered from commonly touched surfaces such as light switches and door handles in an office environment. We evaluated two different methods to isolate DNA and co-extract DNA and RNA from the samples. DNA profiles were compared to the references of the inhabitants of the different locations and were analyzed taking into consideration the type of sampled surface, sampling location and information about the activities in a room during the sampling day. Results from DNA samples collected from surfaces were also compared to those from air and dust samples collected in parallel from the same areas. We characterized the amount and composition of DNA found on various surfaces and showed that surface DNA sampling can be used to detect occupants of a location. The results also indicate that combining information from environmental samples collected from different DNA sources can improve our understanding of DNA transfer events in an indoor setting. This study further demonstrates the potential of human environmental DNA as an investigative tool in forensic genetics.
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Agudo, Maria Martin; Fantinato, Chiara; Røseth, Arne; Aanes, Håvard; Gill, Peter & Fonneløp, Ane Elida
[Vis alle 7 forfattere av denne artikkelen]
(2024).
A comparison of likelihood ratios calculated from surface DNA mixtures using MPS and CE Technologies.
Forensic Science International: Genetics.
ISSN 1872-4973.
73:103111,
s. 1–10.
doi:
10.1016/j.fsigen.2024.103111.
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This study evaluates the performance of analysing surface DNA samples using massively parallel sequencing (MPS) compared to traditional capillary electrophoresis (CE). A total of 30 samples were collected from various surfaces in an office environment and were analysed with CE and MPS. These were compared against 60 reference samples (office inhabitants). To identify contributors, likelihood ratios (LRs) were calculated for MPS and CE data using the probabilistic genotyping software MPSproto and EuroForMix respectively. Although a higher number of sequences/peaks were observed per DNA profile in MPS compared to CE, LR values were found to be lower for MPS data formats. This might be the result of the increased complexity of MPS data, along with a possible elevation of unknown alleles and/or artefacts. The study highlights avenues for improving MPS data quality and analysis to facilitate more robust interpretation of challenging casework-like samples.
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McCarthy-Allen, M.; Bleka, Øyvind; Ypma, R.; Gill, Peter & Benschop, C.
(2024).
‘Low’ LRs obtained from DNA mixtures: On calibration and discrimination performance of probabilistic genotyping software.
Forensic Science International: Genetics.
ISSN 1872-4973.
73:103099,
s. 1–16.
doi:
10.1016/j.fsigen.2024.103099.
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The validity of a probabilistic genotyping (PG) system is typically demonstrated by following international guidelines for the developmental and internal validation of PG software. These guidelines mainly focus on discriminatory power. Very few studies have reported with metrics that depend on calibration of likelihood ratio (LR) systems. In this study, discriminatory power as well as various calibration metrics, such as Empirical Cross-Entropy (ECE) plots, pool adjacent violator (PAV) plots, log likelihood ratio cost (Cllr and Cllrcal), fiducial calibration discrepancy plots, and Turing’ expectation were examined using the publicly-available PROVEDIt dataset. The aim was to gain deeper insight into the performance of a variety of PG software in the ‘lower’ LR ranges (∼LR 1–10,000), with focus on DNAStatistX and EuroForMix which use maximum likelihood estimation (MLE). This may be a driving force for the end users to reconsider current LR thresholds for reporting. In previous studies, overstated ‘low’ LRs were observed for these PG software. However, applying (arbitrarily) high LR thresholds for reporting wastes relevant evidential value. This study demonstrates, based on calibration performance, that previously reported LR thresholds can be lowered or even discarded. Considering LRs >1, there was no evidence for miscalibration performance above LR ∼1000 when using Fst 0.01. Below this LR value, miscalibration was observed. Calibration performance generally improved with the use of Fst 0.03, but the extent of this was dependent on the dataset: results ranged from miscalibration up to LR ∼100 to no evidence of miscalibration alike PG software using different methods to model peak height, HMC and STRmix. This study demonstrates that practitioners using MLE-based models should be careful when low LR ranges are reported, though applying arbitrarily high LR thresholds is discouraged. This study also highlights various calibration metrics that are useful in understanding the performance of a PG system.
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Agudo, Maria Martin; Aanes, Håvard; Albert, Michel; Janssen, Kirstin; Gill, Peter & Bleka, Øyvind
(2024).
An overview of autosomal STRs and identity SNPs in a Norwegian population using massively parallel sequencing.
Forensic Science International: Genetics.
ISSN 1872-4973.
71:103057,
s. 1–9.
doi:
10.1016/j.fsigen.2024.103057.
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In recent years, probabilistic genotyping software has been adapted for the analysis of massively parallel sequencing (MPS) forensic data. Likelihood ratios (LR) are based on allele frequencies selected from populations of interest. This study provides an outline of sequence-based (SB) allele frequencies for autosomal short tandem repeats (aSTRs) and identity single nucleotide polymorphisms (iSNPs) in 371 individuals from Southern Norway. 27 aSTRs and 94 iSNPs were previously analysed with the ForenSeq™ DNA Signature Prep Kit (Verogen). The number of alleles with frequencies less than 0.05 for sequenced-based alleles was 4.6 times higher than for length-based alleles. Consistent with previous studies, it was observed that sequence-based data (both with and without flanks) exhibited higher allele diversity compared to length-based (LB) data; random match probabilities were lower for SB alleles confirming their advantage to discriminate between individuals. Two alleles in markers D22S1045 and Penta D were observed with SNPs in the 3´flanking region, which have not been reported before. Also, a novel SNP with a minor allele frequency (MAF) of 0.001, was found in marker TH01. The impact of the sample size on minor allele frequency (MAF) values was studied in 88 iSNPs from Southern Norway (n = 371). The findings were then compared to a larger Norwegian population dataset (n = 15,769). The results showed that the smaller Southern Norway dataset provided similar results, and it was a representative sample. Population structure was analyzed for regions within Southern Norway; FST estimates for aSTR and iSNPs did not indicate any genetic structure. Finally, we investigated the genetic differences between Southern Norway and two other populations: Northern Norway and Denmark. Allele frequencies between these populations were compared, and we found no significant frequency differences (p-values > 0.0001). We also calculated the pairwise FST values per marker and comparisons between Southern and Northern Norway showed small differences. In contrast, the comparisons between Southern Norway and Denmark showed higher FST values for some markers, possibly driven by distinct alleles that were present in only one of the populations. In summary, we propose that allele frequencies from each population considered in this study could be used interchangeably to calculate genotype probabilities.
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Goray, Mariya; Taylor, Duncan; Bibbo, Emily; Patel, Dhruvi; Fantinato, Chiara & Fonneløp, Ane Elida
[Vis alle 8 forfattere av denne artikkelen]
(2024).
Up in the air: Presence and collection of DNA from air and air conditioner units.
Electrophoresis.
ISSN 0173-0835.
45(9-10),
s. 933–947.
doi:
10.1002/elps.202300227.
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Biological material is routinely collected at crime scenes and from exhibits and is a key type of evidence during criminal investigations. Touch or trace DNA samples from surfaces and objects deemed to have been contacted are frequently collected. However, a person of interest may not leave any traces on contacted surfaces, for example, if wearing gloves. A novel means of sampling human DNA from air offers additional avenues for DNA collection. In the present study, we report on the results of a pilot study into the prevalence and persistence of human DNA in the air. The first aspect of the pilot study investigates air conditioner units that circulate air around a room, by sampling units located in four offices and four houses at different time frames post-cleaning. The second aspect investigates the ability to collect human DNA from the air in rooms, with and without people, for different periods of time and with different types of collection filters. Results of this pilot study show that human DNA can be collected on air conditioner unit surfaces and from the air, with air samples representing the more recent occupation while air conditioner units showing historic use of the room.
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Fantinato, Chiara; Fonneløp, Ane Elida; Bleka, Øyvind; Vigeland, Magnus Dehli & Gill, Peter
(2023).
The invisible witness: air and dust as DNA evidence of human occupancy in indoor premises.
Scientific Reports.
13:19059(1),
s. 1–16.
doi:
10.1038/s41598-023-46151-7.
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Abstract Humans constantly shed deoxyribonucleic acid (DNA) into the surrounding environment. This DNA may either remain suspended in the air or it settles onto surfaces as indoor dust. In this study, we explored the potential use of human DNA recovered from air and dust to investigate crimes where there are no visible traces available—for example, from a recently vacated drugs factory where multiple workers had been present. Samples were collected from three indoor locations (offices, meeting rooms and laboratories) characterized by different occupancy types and cleaning regimes. The resultant DNA profiles were compared with the reference profiles of 55 occupants of the premises. Our findings showed that indoor dust samples are rich sources of DNA and provide an historical record of occupants within the specific locality of collection. Detectable levels of DNA were also observed in air and dust samples from ultra-clean forensic laboratories which can potentially contaminate casework samples. We provide a Bayesian statistical model to estimate the minimum number of dust samples needed to detect all inhabitants of a location. The results of this study suggest that air and dust could become novel sources of DNA evidence to identify current and past occupants of a crime scene.
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Fantinato, Chiara; Gill, Peter & Fonneløp, Ane Elida
(2022).
Detection of human DNA in the air.
Forensic Science International: Genetics Supplement Series.
ISSN 1875-1768.
8,
s. 282–284.
doi:
10.1016/j.fsigss.2022.10.063.
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Large quantities of human cells and DNA fragments are continually released into the air and this constitutes a significant proportion of indoor dust. This study explored the feasibility of aerosol DNA as a source of information to aid human identification in criminal cases. Air samples were collected using the AirPrep™ ACD220 electret filter air sampler from indoor environments. Dust samples were collected in parallel from surfaces in the same areas. A new method to extract human DNA from the air filters was developed. DNA profiles were evaluated in relation to the use and time of occupancy of the room from where samples were collected. This study showed that human DNA can be collected from air in sufficient amounts to yield full STR genotypes, suggesting the potential use of aerosol DNA as a novel investigative tool for forensic applications.
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Bleka, Øyvind; Prieto, Lourdes & Gill, Peter
(2022).
EFMrep: An extension of EuroForMix for improved combination of STR DNA mixture profiles.
Forensic Science International: Genetics.
ISSN 1872-4973.
61:102771,
s. 1–7.
doi:
10.1016/j.fsigen.2022.102771.
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The EuroForMix model has been extended to create a new open-source software called EFMrep which enables the combination of STR DNA mixture samples from different multiplexes. In addition to calculating combined likelihood ratios and carrying out deconvolution, the software also includes the capability to specify related unknown individuals. A graphical user interface has been implemented to ease the analysis for practitioners in real case work. The effect of combining multiple samples based on the PROVEDIt dataset was investigated, either from the same or different multiplexes. The information gain increases when more samples are combined. A head-to-head comparison against EuroForMix shows the benefit of a more general model. Guidelines are provided. A real case example was used to demonstrate how EFMrep could be used to combine multiple samples when a proposition includes kinship.
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Agudo, Maria Martin; Aanes, Håvard; Roseth, Arne; Albert, Michel; Gill, Peter & Bleka, Øyvind
(2022).
A comprehensive characterization of MPS-STR stutter artefacts.
Forensic Science International: Genetics.
ISSN 1872-4973.
60:102728,
s. 1–12.
doi:
10.1016/j.fsigen.2022.102728.
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Interpretation of DNA evidence involving mixtures is challenging when alleles from minor contributors coincide with stutters from major contributors. To accommodate this, it is important to have a good understanding of stutter sequence formation trends. Here, multiple stutter types were characterized based on massively parallel sequencing (MPS) data from 387 single source samples, using the Verogen ForenSeq™ DNA Signature Prep kit. A beta regression model was used to investigate the relationship between the stutter proportion and candidate explanatory variables. In the final model, stutter proportions were explained by the length of the parental uninterrupted stretch (PTUS), which is comparable to block length of the missing motif (BLMM). Also, different stutter types (n+1, n-1, n+2, n-2, n0) were analyzed separately per locus. The fitted stutter models were then integrated into an extended probabilistic genotyping model based on EuroForMix (MPSproto). An illustrative minor/major mock mixture example is discussed. Evaluation of multiple types of stutters on a per locus basis improved the probabilistic genotyping result compared to the conventional EuroForMix model, using the LUS+ nomenclature.
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Bleka, Øyvind; Just, Rebecca; Agudo, Maria Martin & Gill, Peter
(2022).
MPSproto: An extension of EuroForMix to evaluate MPS-STR mixtures.
Forensic Science International: Genetics.
ISSN 1872-4973.
61:102781,
s. 1–12.
doi:
10.1016/j.fsigen.2022.102781.
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We have developed MPSproto as an extension of EuroForMix to improve handling of stutter artefacts and other typing errors that commonly occur in MPS-STR data. MPSproto implements two models for read depth: gamma and negative binomial. It differs from EuroForMix in that calibration is required before mixtures are interpreted. In this study a mixture dataset (2–4 persons) was revisited, where EuroForMix interpretation of MPS-STR mixtures using the LUS+ format was first described; the performance of this model was compared to the MPSproto models. Results indicated that, overall, the MPSproto models performed better than the conventional EuroForMix model, and the gamma model implemented in MPSproto performed best. Differences were highlighted and further investigated to establish causality. Goodness of fit tests showed that the MPSproto models were adequate for the sequence reads when a low analytical threshold was applied.
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Fantinato, Chiara; Gill, Peter & Fonneløp, Ane Elida
(2022).
Non-self DNA on the neck: a 24 hours time-course study.
Forensic Science International: Genetics.
ISSN 1872-4973.
57:102661,
s. 1–10.
doi:
10.1016/j.fsigen.2022.102661.
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Non-self DNA is normally present on skin due to DNA transfer occurring during daily activities. The understanding of persistence and accumulation of foreign DNA on the neck can assist in the interpretation of DNA evidence collected from an assaulted victim. Establishing the composition and level of non-self DNA present is relevant, especially in cases where the victim cohabits with other individuals, such as partner and children. This study investigated the persistence and accumulation of non-self DNA on the neck, over the course of 24 h. DNA samples were collected from the neck of 20 adult volunteers at three time-points, on two days. The detection of a partner's DNA and DNA from unknown sources was studied in relation to the living arrangement and to the activities performed by each individual. An increased number of non-self alleles were detected over time. Partner's DNA was observed to accumulate during the day and to persist when an individual was absent from the shared home environment. DNA from unknown contributors was found on the neck of individuals that used public transport, attended public spaces and had social interactions. The data acquired from this study will help to increase knowledge on the composition of DNA present on an individual's neck in a daily situation.
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Johannessen, Helen Maria; Gill, Peter; Shanthan, Gnanagowry & Fonneløp, Ane Elida
(2022).
Transfer, persistence and recovery of DNA and mRNA vaginal mucosa markers after intimate and social contact with Bayesian network analysis for activity level reporting.
Forensic Science International: Genetics.
ISSN 1872-4973.
60:102750,
s. 1–17.
doi:
10.1016/j.fsigen.2022.102750.
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In sexual assault cases, it can be challenging to identify the type of body fluids/ cell types present in a crime scene sample, especially the origin of epithelial cells. Therefore, more labs are applying mRNA body fluid analysis for saliva, skin and vaginal mucosa markers. To address activity level propositions, it is necessary to assign probabilities of transfer, persistence, prevalence and recovery of DNA and mRNA markers. In this study we analysed 158 samples (fingernail swabs, penile swabs and boxershorts) from 12 couples collected at different time points post intimate contact and after non-intimate contact in order to detect DNA from the person of interest (POI) and mRNA vaginal mucosa markers. Samples were DNA and RNA co-extracted and analysed with PowerPlex®Fusion 6C System and 19-plex mRNA primer mix respectively, using Endpoint PCR and the CE platform. Vaginal mucosa was detected up to 36 h post intimate contact, but also detected in one non-intimate contact sample. In 94% of intimate contact and 50 % of non-intimate contact samples the DNA results support the proposition that POI is the donor (LR ≥ 10,000). There was a strong association between the detection of vaginal mucosa and the average RFU value of the POI. The data were used to instantiate a comprehensive Bayesian network to evaluate the evidence at activity level, given alternate propositions conditioned upon indirect or direct transfer events. It is shown that the value of the evidence is mainly affected by the high DNA quantity (measured as mean RFU) that is recovered from the POI. The detection of vaginal mucosa had low impact upon the resultant likelihood ratio.
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Gill, Peter; Bleka, Øyvind & Fonneløp, Ane Elida
(2022).
Limitations of qPCR to estimate DNA quantity: An RFU method to facilitate inter-laboratory comparisons for activity level, and general applicability.
Forensic Science International: Genetics.
ISSN 1872-4973.
61:102777,
s. 1–7.
doi:
10.1016/j.fsigen.2022.102777.
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The application of qPCR to estimate the quantity of DNA present is usually based upon a short amplicon (typically c.80bp) and a longer amplicon (typically c.200–300bp) where the latter is used to determine the amount of degradation present in a sample. The data are used to make decisions about a) whether there is sufficient template to amplify? b) how much of the elution volume to forward to PCR? A typical multiplex amplifies template in the region of 100–500bp. Consequently, the results from an 80bp amplicon will tend to overestimate the actual amplifiable quantity that is present in a degraded sample. To compensate, a method is presented that relates the quantity of amplifiable DNA to the average RFU of the amplified fragments. This provides greatly improved accuracy of the estimated quantity of DNA present, which may differ by more than an order of magnitude compared to qPCR. The relative DNA quantities can be apportioned per contributor once mixture proportions are ascertained with probabilistic genotyping software (EuroForMix). The motivation for this work was to provide an improved method to generate data to prepare distributions that are used to inform activity level propositions. However, other applications will benefit, particularly those where extraction and quantification are bypassed: For example direct PCR and Rapid DNA technology. The overall aim of this work was to provide a method of quantification that is standardised and can be used to compare results between different laboratories that use different multiplexes. A software solution ”ShinyRFU” is provided to aid calculations.
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Dørum, Guro; Bleka, Øyvind; Gill, Peter & Haas, Cordula
(2022).
Source level interpretation of mixed biological stains using coding region SNPs.
Forensic Science International: Genetics.
ISSN 1872-4973.
59:102685,
s. 1–14.
doi:
10.1016/j.fsigen.2022.102685.
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The association of body fluids/cell types and donors in mixed biological traces is an important, but challenging task required to evaluate the value of evidence given forensic propositions concerning the source of the DNA. The linking of a DNA profile with evidence from presumptive tests or RNA analysis is not straightforward. Coding region SNPs (cSNPs) are a novel type of evidential markers that are both cell type specific and individual specific. They thereby provide a direct link between a donor and a body fluid in mixed biological stains. In this proof-of-concept paper we consider the evaluation of cSNP profiles given source level propositions and explore the use of the open-source software EuroForMix to compute likelihood ratios. The discrimination power of the cSNPs for various body fluids is investigated with simulations. We provide case examples where the type of biological material is questioned and where cSNP profiles can be used to assign a donor to a body fluid, and discuss how the results can be reported in court.
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Cheng, Kevin; Bleka, Øyvind; Gill, Peter; Curran, James; Bright, Jo-Anne & Taylor, Duncan
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(2021).
A comparison of likelihood ratios obtained from EuroForMix and STRmix™.
Journal of Forensic Sciences.
ISSN 0022-1198.
66(6),
s. 2138–2155.
doi:
10.1111/1556-4029.14886.
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Likelihood ratios (LR) differences between the probabilistic genotyping software EuroForMix and STRmix™ are examined. After considering differences in the allele probabilities, the LRs from both software for an unambiguous single-source profile were identical (four significant figures). LRs from both software for an unambiguous single-source profile with alleles previously unseen in the allele frequency database (rare alleles) were the same (three significant figures) for θ = 0.01. Due to differences in the minimum allele frequencies, the LRs differed by three orders of magnitude when θ = 0. For both software, the LRs for a single-source dilution series decreased as the input amount decreased. The LRs from both software were within an order of magnitude for known contributors. The largest difference was where the target input amount was 0.0156 ng: The LREuroForMix was 2.1 × 1025 and the LRSTRmix was 8.0 × 1024. Both software show similar LR behavior with respect to mixture ratio. For two person mixtures the LR increases for both the major and the minor as the ratio moves away from 1:1. The LR for the major stabilizes at about 3:1 whereas the LR for the minor reaches its maximum at about 3:1 and then declines. Greater differences in LR were observed between EuroForMix and STRmix™ for mixtures. One-hundred and twenty-nine mixtures from the PROVEDIt dataset were compared. LRs for 84% of the comparisons for known contributors without rare alleles were within two orders of magnitude. Five divergent results were investigated, and a manual intervention approach was applied where appropriate.
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Gill, Peter; Bleka, Øyvind; Roseth, Arne & Fonneløp, Ane Elida
(2021).
An LR framework incorporating sensitivity analysis to model multiple direct and secondary transfer events on skin surface.
Forensic Science International: Genetics.
ISSN 1872-4973.
53:102509,
s. 1–15.
doi:
10.1016/j.fsigen.2021.102509.
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Bayesian logistic regression is used to model the probability of DNA recovery following direct and secondary transfer and persistence over a 24 h period between deposition and sample collection. Sub-source level likelihood ratios provided the raw data for activity-level analysis. Probabilities of secondary transfer are typically low, and there are challenges with small data-sets with low numbers of positive observations. However, the persistence of DNA over time can be modelled by a single logistic regression for both direct and secondary transfer, except that the time since deposition must be compensated by an offset value for the latter. This simplifies the analysis. Probabilities are used to inform an activity-level Bayesian Network that takes account of alternative propositions e.g. time of assault and time of social activities. The model is extended in order to take account of multiple contacts between person of interest and ’victim’. Variables taken into account include probabilities of direct and secondary transfer, along with background DNA from unknown individuals. The logistic regression analysis is Bayesian — for each analysis, 4000 separate simulations were carried out. Quantile assignments enable calculation of a plausible range of probabilities and sensitivity analysis is used to describe the corresponding variation of s that occur when modelled by the Bayesian network. It is noted that there is need for consistent experimental design, and analysis, to facilitate inter-laboratory comparisons. Appropriate recommendations are made. The open-source program written in R-code ALTRaP (Activity Level, Transfer, Recovery and Persistence) enables analysis of complex multiple transfer propositions that are commonplace in cases-work e.g. between those who cohabit. A number of case examples are provided. ALTRaP can be used to replicate the results and can easily be modified to incorporate different sets of data and variables.
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Fonneløp, Ane Elida; Faria, Sara; Shanthan, Gnanagowry & Gill, Peter
(2021).
Who Packed the Drugs? Application of Bayesian Networks to Address Questions of DNA Transfer, Persistence, and Recovery from Plastic Bags and Tape.
Genes.
13:18(1),
s. 1–19.
doi:
10.3390/genes13010018.
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When DNA from a suspect is detected in a sample collected at a crime scene, there can be alternative explanations about the activity that may have led to the transfer, persistence and recovery of his/her DNA. Previous studies have shown that DNA can be indirectly transferred via intermediate surfaces and that DNA on a previously used object can persist after subsequent use of another individual. In addition, it has been shown that a person’s shedder status may influence transfer, persistence, prevalence, and recovery of DNA. In this study we have investigated transfer persistence and recovery on zip-lock bags and tape, which are commonly encountered in drug cases and how the shedder status of the participants influenced the results. A probabilistic framework was developed which was based on a previously described Bayesian network with case-specific modifications. Continuous modelling of data was used to inform the Bayesian networks and two case scenarios were investigated. In the specific scenarios only moderate to low support for Hp was obtained. Applying a continuous model based on the profile quality can change the LRs.
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Johannessen, Helen Maria; Gill, Peter; Roseth, Arne & Fonneløp, Ane Elida
(2021).
Determination of shedder status: A comparison of two methods involving cell counting in fingerprints and the DNA analysis of handheld tubes.
Forensic Science International: Genetics.
ISSN 1872-4973.
53:102541,
s. 1–10.
doi:
10.1016/j.fsigen.2021.102541.
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The shedder status of an individual may be important to consider in the context of DNA transfer, persistence and recovery and in Bayesian networks where a person’s shedder status may have an impact on the outcome. In this study we compared two methods to determine shedder status: the handheld tube (HH) method and a fluorescent cell count (CC) method. A poor association was observed between the numbers of detected cells in a fingerprint using the CC method and the strength of the DNA result with the HH method. The 20 participants were classified into low (25%), medium (50%) and high (25%) shedders based on the HH method. While the low and high shedders showed a good consistency between the replicates, the medium shedders varied more and have to be considered more carefully as they may act as either a high or a low shedder in an event of DNA transfer.
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Gill, Peter; Bleka, Øyvind & Fonneløp, Ane Elida
(2021).
RFU derived LRs for activity level assignments using Bayesian Networks.
Forensic Science International: Genetics.
ISSN 1872-4973.
56:102608,
s. 1–5.
doi:
10.1016/j.fsigen.2021.102608.
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A comparative study has been carried out, comparing two different methods to estimate activity level likelihood ratios (𝐿𝑅𝑎) using Bayesian Networks. The first method uses the sub-source likelihood ratio (𝑙𝑜𝑔10𝐿𝑅𝜙) as a ‘quality indicator’. However, this has been criticised as introducing potential bias from population differences in allelic proportions. An alternative method has been introduced that is based upon the total 𝑅𝐹𝑈 of a DNA profile that is adjusted using the mixture proportion (𝑀𝑥) which is calculated from quantitative probabilistic genotyping software (EuroForMix). Bayesian logistic regressions of direct transfer data showed that the two methods were comparable. Differences were attributed to sampling error, and small sample sizes of secondary transfer data. The Bayesian approach facilitates comparative studies by taking account of sampling error; it can easily be extended to compare different methods.
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Kalafut, Tim; Pugh, Simone; Gill, Peter; Abbas, Sarah; Semaan, Marie & Mansour, Issam
[Vis alle 11 forfattere av denne artikkelen]
(2021).
A mixed DNA profile controversy revisited.
Journal of Forensic Sciences.
ISSN 0022-1198.
67(1),
s. 128–135.
doi:
10.1111/1556-4029.14912.
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Semaan et al. (J Forensic Res, 2020, 11, 453) discuss a mock case “where eight different individuals [P1 through P8] could not be excluded in a mixed DNA analysis. Even though … expert DNA mixture analysis software was used.” Two of these are the true donors. The LRs reported are incorrect due to the incorrect entry of propositions into LRmix Studio. This forced the software to account for most of the alleles as drop-in, resulting in LRs 60–70 orders of magnitude larger than expected. P1, P2, P4, P5, and P8 can be manually excluded using peak heights. This has relevance when using LRmix which does not use peak heights. We extend the work using the same two reference genotypes who were the true contributors as Semaan et al. (J Forensic Res, 2020, 11, 453). We simulate three two-donor mixtures with peak heights using these two genotypes and analyze using STRmix™. For the simulated 1:1 mixture, one of the non-donors’ LRs supported him being a contributor when no conditioning was used. When considered in combination with any other potential donors (i.e., with conditioning), this non-donor was correctly eliminated. For the 3:1 mixture, all results correctly supported that the non-donors were not contributors. The low-template 4:1 mixture LRs with no conditioning showed support for all eight profiles as donors. However, the results from pair-wise conditioning showed that only the two ground truth donors had LRs supporting that they were contributors to the mixture. We recommend the use of peak heights and conditioning profiles, as this allows better sensitivity and specificity even when the persons share many alleles.
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Gill, Peter; Benschop, Corina; Buckleton, John; Bleka, Øyvind & Taylor, Duncan
(2021).
A Review of Probabilistic Genotyping Systems: EuroForMix,
DNAStatistX and STRmix™.
Genes.
12:1559(10),
s. 1–40.
doi:
10.3390/genes12101559.
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Probabilistic genotyping has become widespread. EuroForMix and DNAStatistX are both based upon maximum likelihood estimation using a γ model, whereas STRmix™ is a Bayesian approach that specifies prior distributions on the unknown model parameters. A general overview is provided of the historical development of probabilistic genotyping. Some general principles of interpretation are described, including: the application to investigative vs. evaluative reporting; detection of contamination events; inter and intra laboratory studies; numbers of contributors; proposition setting and validation of software and its performance. This is followed by details of the evolution, utility, practice and adoption of the software discussed.
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Bleka, Øyvind; Just, Rebecca; Le, Jennifer & Gill, Peter
(2020).
An examination of STR nomenclatures, filters and models for MPS mixture interpretation.
Forensic Science International: Genetics.
ISSN 1872-4973.
48:102319,
s. 1–13.
doi:
10.1016/j.fsigen.2020.102319.
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The increased interest in the use of Massively Parallel Sequencing (MPS) technologies to type traditional autosomal STR markers raises multiple questions regarding interpretation of the results via probabilistic genotyping. To begin to address some of those questions, we examined the effects of using differing degrees of sequence information, pre-filtering, and data modeling to interpret complex MPS-STR mixtures in a probabilistic genotyping software. Sixty ForenSeq typing results for mixtures of from two to four contributors were: 1) represented using three separate formats that captured different degrees of sequence information, and 2) were analyzed using three different filtering approaches prior to probabilistic interpretation. All mixtures for the different format and filtering variants were subsequently interpreted with respect to ten reference profiles, using both qualitative (LRmix) and quantitative (EuroForMix) models to calculate the likelihood ratio (LR). The LR results indicated moderate information gain when the STR nomenclature was based upon the longest uninterrupted stretch (LUS) compared with conventional capillary electrophoresis repeat units (RU), whereas additional gains were very small when the complete sequence information was utilised. Use of a static analytical threshold for data pre-filtering improved LRs compared to a dynamic (percentage-based) threshold, as the static threshold prevented excessive filtering of alleles originating from minor contributors. For interpretations performed using a quantitative model, a small improvement in performance was observed if a stutter model was employed instead of using stutter thresholds to pre-filter the data, whereas – as expected – performance worsened considerably under the qualitative model when stutter was not pre-filtered. Given the empirical and theoretical findings in this study we discuss the value of utilizing sequence-level information and potential paths forward to increase information gain using MPS systems.
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Smith, Freya; Robertson, Andrew; Smith, Graham C.; Gill, Peter; McDonald, Robbie A. & Wilson, Gavin
[Vis alle 7 forfattere av denne artikkelen]
(2020).
Estimating wildlife vaccination coverage using genetic methods.
Preventive Veterinary Medicine.
ISSN 0167-5877.
183:105096,
s. 1–7.
doi:
10.1016/j.prevetmed.2020.105096.
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Vaccination is a useful approach for the control of disease in wildlife populations. However, its effectiveness is dependent in part on delivery to a sufficient proportion of the target population. Measuring the proportions of wild animal populations that have been vaccinated is challenging and so there is a need to develop robust approaches that can contribute to our understanding of the likely efficacy of wildlife vaccination campaigns. We used a modified capture mark recapture technique to estimate vaccine coverage in a wild population of European badgers (Meles meles) vaccinated by live-trapping and injecting with Bacillus Calmette-Guérin as part of a bovine tuberculosis control initiative in Wales, United Kingdom. Our approach used genetic matching of vaccinated animals to a sample of the wider population to estimate the percentage of badgers that had been vaccinated. Individual-specific genetic profiles were obtained using microsatellite genotyping of hair samples, which were collected directly from trapped and vaccinated badgers and non-invasively from the wider population using hair traps deployed at badger burrows (setts). With two nights of trapping at each sett in an annual campaign, an estimated 50 % (95 % confidence interval 40−60 %) of the badger population received at least one dose of vaccine in a single year. Using a simple population model this suggested that the proportion of the population that would have received at least one dose of vaccine over the course of the four year vaccination campaign was between 67 % and 83 %. This is the first attempt, outside of field trials, to quantify the level of vaccine coverage achieved by trapping and injecting badgers, which is currently the only option for delivering BCG vaccine to this species. The results therefore have specific application to bTB control policy and the novel approach may have wider value in wildlife management and research.
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Buckleton, John S.; Pugh, Simone N.; Bright, Jo-Anne; Taylor, Duncan; Curran, James M. & Kruijver, Maarten
[Vis alle 9 forfattere av denne artikkelen]
(2020).
Are low LRs reliable?
Forensic Science International: Genetics.
ISSN 1872-4973.
49:102350,
s. 1–7.
doi:
10.1016/j.fsigen.2020.102350.
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To answer the question “Are low likelihood ratios reliable?” requires both a definition of reliable and then a test of whether low likelihood ratios (LRs) meet that definition. We offer, from a purely statistical standpoint, that reliability can be determined by assessing whether the rate of inclusionary support for non-donors over many cases is not larger than expected from the LR value. Thus, it is not the magnitude of the LR alone that determines reliability. Turing’s rule is used to inform the expected rate of non-donor inclusionary support, where the rate of non-donor inclusionary support is at most the reciprocal of the LR, i.e. Pr(LR > x|Ha) ≤1/x. There are parallel concerns about whether the value of the evidence can be communicated. We do not discuss that in depth here although it is an important consideration to be addressed with training. In this paper, we use a mixture of real and simulated data to show that the rate of non-donor inclusionary support for these data is significantly lower than the upper bound given by Turing’s rule. We take this as strong evidence that low LRs are reliable.
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Fonneløp, Ane Elida; Johannessen, Helen; Heen, Guro; Molland, Karen Helene & Gill, Peter
(2019).
A retrospective study on the transfer, persistence and recovery of sperm and epithelial cells in samples collected in sexual assault casework.
Forensic Science International: Genetics.
ISSN 1872-4973.
43:102153,
s. 1–6.
doi:
10.1016/j.fsigen.2019.102153.
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Data from all sexual assault cases analysed at the Section of Forensic Biology at Oslo University Hospital in the period 2013–2015 were reviewed to study transfer and persistence of cells deposited on the body. Data were recorded on detection of both sperm and epithelial cells. The final dataset consist of 2141 samples from 765 cases. In this study “positive findings” refer to evidence to support the proposition that the DNA profile was contributed by the POI and do not only correspond to detection of cell type, e.g. sperm cells. Positive findings from analysis of sperm cells could be detected in samples collected up to 72 h after deposition, and was less frequently detected in oral swabs were the longest observed persistence time was 12 h. Positive findings from analysis of epithelial cells were observed up to 43 h after deposition. A high success rate was observed from penile swabs collected within 24 h of the incidence demonstrating the importance of collecting and analysing such samples in cases where no semen is detected.
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Gill, Peter; Hicks, Tacha; Butler, John M.; Connolly, Ed; Gusmão, Leonor & Kokshoorn, Bas
[Vis alle 13 forfattere av denne artikkelen]
(2019).
DNA commission of the International society for forensic genetics: Assessing the value of forensic biological evidence - Guidelines highlighting the importance of propositions. Part II: Evaluation of biological traces considering activity level propositions.
Forensic Science International: Genetics.
ISSN 1872-4973.
44.
doi:
10.1016/j.fsigen.2019.102186.
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The value of the evidence depends critically on propositions. In the second of two papers intended to provide advice to the community on difficult aspects of evaluation and the formulation of propositions, we focus primarily on activity level propositions. This helps the court address the question of “How did an individual’s cell material get there?”. In order to do this, we expand the framework outlined in the first companion paper. First, it is important not to conflate results and propositions. Statements given activity level propositions aim to help address issues of indirect vs direct transfer, and the time of the activity, but it is important to avoid use of the word ‘transfer’ in propositions. This is because propositions are assessed by the Court, but DNA transfer is a factor that scientists need to take into account for the interpretation of their results. Suitable activity level propositions are ideally set before knowledge of the results and address issues like: X stabbed Y vs. an unknown person stabbed Y but X met Y the day before. The scientist assigns the probability of the evidence, if each of the alternate propositions is true, to derive a likelihood ratio. To do this, the scientist asks: a) “what are the expectations if each of the propositions is true?” b) “What data are available to assist in the evaluation of the results given the propositions?” When presenting evidence, scientists work within the hierarchy of propositions framework. The value of evidence calculated for a DNA profile cannot be carried over to higher levels in the hierarchy – the calculations given sub-source, source and activity level propositions are all separate. A number of examples are provided to illustrate the principles espoused, and the criteria that such assessments should meet. Ideally in order to assign probabilities, the analyst should have/collect data that are relevant to the case in question. These data must be relevant to the case at hand and we encourage further research and collection of data to form knowledge bases. Bayesian Networks are extremely useful to help us think about a problem, because they force us to consider all relevant possibilities in a logical way. An example is provided.
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Prieto, Lourdes; Gill, Peter & Bleka, Øyvind
(2019).
How to avoid driving DNA caseworkers crazy: CaseSolver, an expert system to investigate complex crime scenes.
Forensic Science International: Genetics Supplement Series.
ISSN 1875-1768.
7(1),
s. 92–94.
doi:
10.1016/j.fsigss.2019.09.036.
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DNA analyses can be used for both investigative (crime scene-focused), or evaluative (suspect-focused) reporting. Investigative, DNA-led exploration of serious crimes always involves the comparison of hundreds of biological samples submitted by the authorities for analysis. Crime stain comparisons include both evidence to evidence profiles and reference to evidence profiles. When many complex DNA results (mixtures, low template LT-DNA samples) are involved in the investigation of a crime, the manual comparison of DNA profiles is very time-consuming and prone to manual errors. In addition, if the person of interest is a minor contributor, the classical approach of performing searches of national DNA databases is problematic because it is realistically restricted to clear major contributors and the occurrence of masking and drop-out means that there will not be a definitive DNA profile to perform the search with. CaseSolver is an open source expert system that automates analysis of complex cases. It does this by three sequential steps: a) simple allele comparison b) likelihood ratio (LR) based on a qualitative model (forensim) c) LR based on a quantitative model (EuroForMix). The software generates a list of potential match candidates, ranked according to the LRs, which can be exported as a report. The software can also identify contributors from small or large databases (e.g., staff database or 1 mill. individuals). In addition, an informative graphical network plot is generated that easily identifies contributors in common to multiple stains. Here we describe recent improvements made to the software in version v1.5.0, made in response to user requirements during intensive casework usage.
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Bleka, Øyvind; Prieto, Lourdes & Gill, Peter
(2019).
CaseSolver: An investigative open source expert system based on EuroForMix.
Forensic Science International: Genetics.
ISSN 1872-4973.
41,
s. 83–92.
doi:
10.1016/j.fsigen.2019.03.024.
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For very serious crimes, reporting scientists often have to contend with complex cases where literally hundreds of items are submitted by investigators for analysis. In order to efficiently expedite the challenge of comparing reference profiles to evidence profiles, many of which are mixtures, we have developed an investigative open source expert system CaseSolver. We have analysed a real case based on GlobalFiler involving 119 evidence profiles and 3 reference profiles. To provide a demonstration of the power of the system we also added the three references to a fictive large database of 1 million individuals in order to test subsequent recovery of the presumed true contributors. CaseSolver was used on a Fusion 6C validation study involving 25 two- to four-person mixture profiles based on 14 reference profiles. The sequential use of simple allele comparison, the qualitative model ( forensim) and the quantitative model ( EuroForMix) makes the analysis very fast and accurate – and finally, the software generates a list of potential match candidates which can be exported as a report. From these two studies we found that the resolution of match candidates from CaseSolver was the same as that reported by a scientist who worked manually through the samples, except that CaseSolver highlighted two manual errors. For the validation study we found low template DNA samples giving negative results, which demonstrate the limitations of the tool; but overall our assessment shows that CaseSolver will benefit all analyses involving mixture interpretation and screening. Importantly, CaseSolver removes the very time-consuming aspect of manual comparison and gives improved quality by preventing manual errors.
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Bleka, Øyvind; Just, Rebecca; Le, Jennifer & Gill, Peter
(2019).
Automation of high volume MPS mixture interpretation using CaseSolver.
Forensic Science International: Genetics Supplement Series.
ISSN 1875-1768.
7(1),
s. 14–15.
doi:
10.1016/j.fsigss.2019.09.006.
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Sixty samples were sequenced using the ForenSeq kit to produce complex STR DNA mixtures, represented with three separate formats capturing different degrees of sequence information. All mixtures were run through the (open-source) CaseSolver software for comparison against both 10 reference profiles. By comparing the performance of the qualitative and the quantitative models for the different allele formats we found the following preliminary results: The quantitative model performed better than the qualitative model, however the gain was only substantial when the LR was already large. The performance gain of using the longest uninterrupted stretch over using only repeat units was large, whereas the further gain of also using the whole sequence information was small.
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Gill, Peter; Hicks, Tacha; Butler, John M.; Connolly, Ed; Gusmão, Leonor & Kokshoorn, Bas
[Vis alle 13 forfattere av denne artikkelen]
(2018).
DNA commission of the International society for forensic genetics: Assessing the value of forensic biological evidence - Guidelines highlighting the importance of propositions: Part I: evaluation of DNA profiling comparisons given (sub-) source propositions.
Forensic Science International: Genetics.
ISSN 1872-4973.
36,
s. 189–202.
doi:
10.1016/j.fsigen.2018.07.003.
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The interpretation of evidence continues to be one of the biggest challenges facing the forensic community. This is the first of two papers intended to provide advice on difficult aspects of evaluation and in particular on the formulation of propositions. The scientist has a dual role: investigator (crime-focused), where often there is no suspect available and a database search may be required; evaluator (suspect-focused), where the strength of evidence is assessed in the context of the case. In investigative mode, generally the aim is to produce leads regarding the source of the DNA. Sub-source level propositions will be adequate to help identify potential suspects who can be further investigated by the authorities. Once in evaluative mode, given the defence version of events of the person of interest, it may become necessary to consider alternatives that go beyond the source of the DNA (i.e., to consider activity level propositions). In the evaluation phase, it is crucial that formulation of propositions allows the assessment of all the results that will help with the issue at hand. Propositions should therefore be precise (indication of the number of contributors, information on the relevant population etc.), be about causes, not effects (e.g. a ‘matching’ DNA profile) and to avoid bias, must not be findings-led. This means that ideally, propositions should be decided based on the case information and before the results of the comparisons are known. This paper primarily reflects upon what has been coined as “sub-source level propositions“. These are restricted to the evaluation of the DNA profiles themselves, and help answer the issue regarding the source of the DNA. It is to be emphasised that likelihood ratios given sub-source level propositions cannot be carried over to a different level – for example, activity level propositions, where the DNA evidence is put into the context of the alleged activities. This would be highly misleading and could give rise to miscarriages of justice; this will be discussed in a second paper. The value of forensic results depends not only on propositions, but also on the type of results (e.g. allelic designations, peak heights, replicates) and upon the model used: it is therefore important to discuss these aspects. Finally, since communication is key to help understanding by courts, we will explore how to convey the value of the results and explain the importance of avoiding the practice of transposing the conditional.
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Gill, Peter
(2018).
DNA evidence and miscarriages of justice.
Forensic Science International.
ISSN 0379-0738.
294,
s. e1–e3.
doi:
10.1016/j.forsciint.2018.12.003.
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DNA analysis has revolutionised forensic science; helping to catch prolific murderers and shining a light on miscarriages of justice that have seen innocent people wrongfully convicted of serious crimes. Such is the power of DNA to identify, convict, and exonerate, that many perceive it to be infallible. Yet DNA evidence has a number of limitations and the costs of not being aware of these can be huge. Also, in the modern era of DNA profiling, techniques are now so sensitive that routinely detecting minute amounts of DNA is possible — even from just a handful of cells, meaning that DNA may be recovered that is irrelevant to the crime. Once a DNA profile is discovered, it can be used to implicate individuals. Trawling the national DNA database to find a DNA match may be used to wrongly identify individuals. Yet without context, such evidence can be embellished and may be presented in a strongly prosecution biased way [1], [2], [3], [4]. The increased sensitivity of forensic DNA techniques therefore makes it even more important for scientists, lawyers and judges to be aware of the limitations of DNA profiling evidence. Here I describe several proven miscarriages of justice have occurred: contamination; background DNA; secondary transfer and the database trawl. Two examples of dangerous practice are provided: DNA as sole evidence and qualitative reporting.
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Hanssen, Eirik Natås; Liland, Kristian Hovde; Gill, Peter & Snipen, Lars-Gustav
(2018).
Optimizing body fluid recognition from microbial taxonomic profiles.
Forensic Science International: Genetics.
ISSN 1872-4973.
37,
s. 13–20.
doi:
10.1016/j.fsigen.2018.07.012.
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Bleka, Øyvind; Eduardoff, Mayra; Santos, Carla; Phillips, Chris; Parson, Walther & Gill, Peter
(2017).
Open source software EuroForMix can be used to analyse complex SNP mixtures.
Forensic Science International: Genetics.
ISSN 1872-4973.
31,
s. 105–110.
doi:
10.1016/j.fsigen.2017.08.001.
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Bleka, Øyvind; Eduardoff, Mayra; Santos, Carla; Phillips, Chris; Parson, Walther & Gill, Peter
(2017).
Using EuroForMix to analyse complex SNP mixtures, up to six contributors.
Forensic Science International: Genetics Supplement Series.
ISSN 1875-1768.
6,
s. e277–e279.
doi:
10.1016/j.fsigss.2017.09.084.
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Bleka, Øyvind; Bouzga, Mariam; Fonneløp, Ane Elida & Gill, Peter
(2017).
dnamatch2: An open source software to carry out large scale database searches of mixtures using qualitative and quantitative models.
Forensic Science International: Genetics Supplement Series.
ISSN 1875-1768.
6,
s. e404–e406.
doi:
10.1016/j.fsigss.2017.09.160.
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Hanssen, Eirik Natås; Lyle, Robert; Egeland, Thore & Gill, Peter
(2017).
Degradation in forensic trace DNA samples explored by massively parallel sequencing.
Forensic Science International: Genetics.
ISSN 1872-4973.
27,
s. 160–166.
doi:
10.1016/j.fsigen.2017.01.002.
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Routine forensic analysis using STRs will fail if the DNA is too degraded. The DNA degradation process in biological stain material is not well understood. In this study we sequenced old semen and blood stains by massively parallel sequencing. The sequence data coverage was used to measure degradation across the genome. The results supported the contention that degradation is uniform across the genome, showing no evidence of regions with increased or decreased resistance towards degradation. Thus the lack of genetic regions robust to degradation removes the possibility of using such regions to further optimize analysis performance for degraded DNA. (C) 2017 Elsevier Ireland Ltd. All rights reserved.
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Hanssen, Eirik Natås; Avershina, Ekaterina; Rudi, Knut; Gill, Peter & Snipen, Lars-Gustav
(2017).
Body Fluid Prediction from Microbial Patterns for Forensic Application.
Forensic Science International: Genetics.
ISSN 1872-4973.
30,
s. 10–17.
doi:
10.1016/j.fsigen.2017.05.009.
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Gill, Peter & Hansson, Nils Oskar Gunnar
(2017).
Characterisation of artefacts and drop-in events using STR-validator and single-cell analysis.
Forensic Science International: Genetics.
ISSN 1872-4973.
30,
s. 57–65.
doi:
10.1016/j.fsigen.2017.04.015.
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Fonneløp, Ane Elida; Ramse, Merete; Egeland, Thore & Gill, Peter
(2017).
The implications of shedder status and background DNA on direct and secondary transfer in an attack scenario.
Forensic Science International: Genetics.
ISSN 1872-4973.
29,
s. 48–60.
doi:
10.1016/j.fsigen.2017.03.019.
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Hansson, Nils Oskar Gunnar; Egeland, Thore & Gill, Peter
(2017).
Characterization of degradation and heterozygote balance by simulation of the forensic DNA analysis process.
International journal of legal medicine (Print).
ISSN 0937-9827.
131(2),
s. 303–317.
doi:
10.1007/s00414-016-1453-x.
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Simulation experiments were used to show the impact of varying extraction efficiency, aliquot proportion, and PCR efficiency on the heterozygote balance of a range of diploid and haploid cells. Reducing either parameters introduces variance. It is well-known that the variance in heterozygote balance increases as the amount of DNA is reduced. Surprisingly the distribution is in fact diamond shaped — the variance start to decrease at very low amounts of DNA. Simulations suggest that pristine diluted DNA is an acceptable approximation in validations to infer heterozygote balance. However, the difference in distribution of the variance between diploid and haploid cell types may, under some circumstances, need to be considered in statistical models. Finally, we exemplify how simulations can be used to predict the outcome of PCR for degraded samples. Visualizing the predicted DNA profile as an electropherogram can help to identify the best approach for sample processing.
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Bleka, Øyvind; Benschop, Corina C G; Storvik, Geir Olve & Gill, Peter
(2016).
A comparative study of qualitative and quantitative models used to interpret complex STR DNA profiles.
Forensic Science International: Genetics.
ISSN 1872-4973.
25,
s. 85–96.
doi:
10.1016/j.fsigen.2016.07.016.
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The investigation of the performance of models to interpret complex DNA profiles is best undertaken using real DNA profiles. Here we used a data set to reflect the variety typically encountered in real casework. The “crime-stains” were constructed from known individuals and comprised a total of 59 diverse samples: pristine DNA/DNA extracted from blood, 2–3 person mixtures, degradation/no-degradation, differences in allele sharing, dropout/no dropout, etc. Two siblings were also included in the test-set in order to challenge the systems. Two kinds of analyses were performed, namely tests on whether a person of interest is a contributor based on weight-of-evidence (likelihood ratio) calculations, and deconvolution test to estimate the profile of unknown constituent parts. The weight-of-evidence analyses compared LRmix Studio with EuroForMix including exploration of the effect of applying an ad hoc stutter-filter. For the deconvolution analysis we compared EuroForMix with LoCIM-tool. When we classified persons of interests into being true contributors or non-contributors, we found that EuroForMix, overall, returned a higher true positive rate for the same false positive levels compared to LRmix. In particular, in cases with an unknown major component, EuroForMix was more discriminating for mixtures where the person of interest was a minor contributor. Comparing deconvolution of major contributors we found that EuroForMix overall performed better than LoCIM-tool.
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Fonneløp, Ane Elida; Johannessen, Helen; Egeland, Thore & Gill, Peter
(2016).
Contamination during criminal investigation: Detecting police contamination and secondary DNA transfer from evidence bags.
Forensic Science International: Genetics.
ISSN 1872-4973.
23,
s. 121–129.
doi:
10.1016/j.fsigen.2016.04.003.
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As the profiling systems used in forensic analyses have become more sensitive in recent years, the risk of detecting a contamination in a DNA sample has increased proportionally. This requires more stringent work protocols and awareness to minimize the chance of contamination. Although there is high consciousness on contamination and best practice procedures in forensic labs, the same requirements are not always applied by the police. In this study we have investigated the risk of contamination from police staff. Environmental DNA was monitored by performing wipe tests (sampling of hot spots) at two large police units (scenes of crime departments). Additionally, the DNA profiles of the scenes of crime officers were compared to casework samples that their own unit had investigated in the period of 2009–2015. Furthermore, a pilot study to assess whether DNA from the outside package of an exhibit could be transferred to a DNA sample was carried out. Environmental DNA was detected in various samples from hot spots. Furthermore, 16 incidences of previously undetected police-staff contamination were found in casework that had been submitted between 2009 and 2015. In 6 cases the police officers with a matching DNA profile reported that they had not been involved with the case. We have demonstrated that DNA from the outside package can be transferred to an exhibit during examination. This experience demonstrates that when implementing the new multiplex systems, it is important to ensure that ‘best practice’ procedures are upgraded, and appropriate training is provided in order to ensure that police are aware of the increased contamination risks.
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Haned, Hinda; Gill, Peter; Lohmueller, Kirk; Inman, Keith & Rudin, Norah
(2016).
Validation of probabilistic genotyping software for use in forensic DNA casework: Definitions and illustrations.
Science & justice.
ISSN 1355-0306.
56(2),
s. 104–108.
doi:
10.1016/j.scijus.2015.11.007.
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Parson, Walther; Ballard, David J.; Budowle, Bruce; Butler, John M.; Gettings, Katherine Butler & Gill, Peter
[Vis alle 17 forfattere av denne artikkelen]
(2016).
Massively parallel sequencing of forensic STRs: Considerations of the DNA commission of the International Society for Forensic Genetics (ISFG) on minimal nomenclature requirements.
Forensic Science International: Genetics.
ISSN 1872-4973.
22,
s. 54–63.
doi:
10.1016/j.fsigen.2016.01.009.
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Bleka, Øyvind; Storvik, Geir Olve & Gill, Peter
(2016).
EuroForMix: An open source software based on a continuous model to evaluate STR DNA profiles from a mixture of contributors with artefacts.
Forensic Science International: Genetics.
ISSN 1872-4973.
21,
s. 35–44.
doi:
10.1016/j.fsigen.2015.11.008.
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We have released a software named EuroForMix to analyze STR DNA profiles in a user-friendly graphical user interface. The software implements a model to explain the allelic peak height on a continuous scale in order to carry out weight-of-evidence calculations for profiles which could be from a mixture of contributors. Through a properly parameterized model we are able to do inference on mixture proportions, the peak height properties, stutter proportion and degradation. In addition, EuroForMix includes models for allele drop-out, allele drop-in and sub-population structure. EuroForMix supports two inference approaches for likelihood ratio calculations. The first approach uses maximum likelihood estimation of the unknown parameters. The second approach is Bayesian based which requires prior distributions to be specified for the parameters involved. The user may specify any number of known and unknown contributors in the model, however we find that there is a practical computing time limit which restricts the model to a maximum of four unknown contributors. EuroForMix is the first freely open source, continuous model (accommodating peak height, stutter, drop-in, drop-out, population substructure and degradation), to be reported in the literature. It therefore serves an important purpose to act as an unrestricted platform to compare different solutions that are available. The implementation of the continuous model used in the software showed close to identical results to the R-package DNAmixtures, which requires a HUGIN Expert license to be used. An additional feature in EuroForMix is the ability for the user to adapt the Bayesian inference framework by incorporating their own prior information.
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Coble, Michael D.; Buckleton, John; Butler, John M.; Egeland, Thore; Fimmers, Rolf & Gill, Peter
[Vis alle 16 forfattere av denne artikkelen]
(2016).
DNA Commission of the International Society for Forensic Genetics: Recommendations on the validation of software programs performing biostatistical calculations for forensic genetics applications.
Forensic Science International: Genetics.
ISSN 1872-4973.
25,
s. 191–197.
doi:
10.1016/j.fsigen.2016.09.002.
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Fonneløp, Ane Elida; Egeland, Thore & Gill, Peter
(2015).
Secondary and subsequent DNA transfer during criminal investigation.
Forensic Science International: Genetics.
ISSN 1872-4973.
17,
s. 155–162.
doi:
10.1016/j.fsigen.2015.05.009.
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Benschop, Corina C G; Haned, Hinda; Jeurissen, Loes; Gill, Peter & Sijen, Titia
(2015).
The effect of varying the number of contributors on likelihood ratios for complex DNA mixtures.
Forensic Science International: Genetics.
ISSN 1872-4973.
19,
s. 92–99.
doi:
10.1016/j.fsigen.2015.07.003.
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Gill, Peter; Haned, Hinda; Bleka, Øyvind; Hansson, Nils Oskar Gunnar; Dørum, Guro & Egeland, Thore
(2015).
Genotyping and interpretation of STR-DNA: Low-template mixtures and database matches - Twenty years of research and development.
Forensic Science International: Genetics.
ISSN 1872-4973.
18,
s. 100–117.
doi:
10.1016/j.fsigen.2015.03.014.
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Fonneløp, Ane Elida; Johannessen, Helen & Gill, Peter
(2015).
Persistence and secondary transfer of DNA from previous users of
equipment.
Forensic Science International: Genetics Supplement Series.
ISSN 1875-1768.
5,
s. 191–192.
doi:
10.1016/j.fsigss.2015.09.077.
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A study of persistence of DNA from previous users’ computer equipment and secondary transfer to a new
user’s hand was conducted. Four individuals (two male and two female) swapped their personal
computer keyboard and mouse. Samples were collected from parts of the equipment (background DNA),
and from the new users’ hands on the
first day and then frequently until the previous users’ DNA could
not be detected. Additional Y-analysis was performed on the samples collected from the female
participants’ hands. In the samples collected from the new users’ hands on the
first day of the swap,
alleles identical to those of the previous user were observed in mixtures in all cases except the samples
collected from the good shedder’s hands. This study shows that it is possible to transfer an initial user’s
DNA from the computer equipment to the hands of a new user up to eight days after receiving the
equipment.
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Gill, Peter; Haned, Hinda; Eduardoff, Mayra; Santos, Carla; Phillips, Chris & Parson, Walther
(2015).
The open-source software LRmix can be used to analyse SNP mixtures.
Forensic Science International: Genetics Supplement Series.
ISSN 1875-1768.
5,
s. e50–e51.
doi:
10.1016/j.fsigss.2015.09.020.
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Bleka, Øyvind; Dørum, Guro; Haned, Hinda & Gill, Peter
(2014).
Database extraction strategies for low-template evidence.
Forensic Science International: Genetics.
ISSN 1872-4973.
9,
s. 134–141.
doi:
10.1016/j.fsigen.2013.11.006.
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Haned, Hinda; Benschop, Corina C G; Gill, Peter & Sijen, Titia
(2014).
Complex DNA mixture analysis in a forensic context: Evaluating the probative value using a likelihood ratio model.
Forensic Science International: Genetics.
ISSN 1872-4973.
16,
s. 17–25.
doi:
10.1016/j.fsigen.2014.11.014.
Fulltekst i vitenarkiv
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Gill, Peter; Bleka, Øyvind & Egeland, Thore
(2014).
Does an English appeal court ruling increase the risks of miscarriages of justice when complex DNA profiles are searched against the national DNA database?
Forensic Science International: Genetics.
ISSN 1872-4973.
13,
s. 167–175.
doi:
10.1016/j.fsigen.2014.07.015.
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Hansson, Nils Oskar Gunnar; Gill, Peter & Egeland, Thore
(2014).
STR-validator: An open source platform for validation and process control.
Forensic Science International: Genetics.
ISSN 1872-4973.
13,
s. 154–166.
doi:
10.1016/j.fsigen.2014.07.009.
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Gill, Peter & Haned, H.
(2013).
A new methodological framework to interpret complex DNA profiles using likelihood ratios.
Forensic Science International: Genetics.
ISSN 1872-4973.
7(2),
s. 251–263.
doi:
10.1016/j.fsigen.2012.11.002.
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Hansson, Nils Oskar Gunnar & Gill, Peter
(2013).
Free open source software for internal validation of forensic STR typing kits.
Forensic Science International: Genetics Supplement Series.
ISSN 1875-1768.
4(1),
s. e300–e301.
doi:
10.1016/j.fsigss.2013.10.153.
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Haned, H.; Dørum, Guro; Egeland, Thore & Gill, Peter
(2013).
On the meaning of the likelihood ratio: Is a large number always an indication of strength of evidence?
Forensic Science International: Genetics Supplement Series.
ISSN 1875-1768.
4(1),
s. e176–e177.
doi:
10.1016/j.fsigss.2013.10.091.
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Bright, Jo-Anne; McManus, Kurt; Harbison, SallyAnn; Gill, Peter & Buckleton, John
(2012).
A comparison of stochastic variation in mixed and unmixed casework and synthetic samples.
Forensic Science International.
ISSN 0379-0738.
6(2),
s. 180–184.
doi:
10.1016/j.fsigen.2011.04.010.
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Kitpipit, Thitika; Tobe, Shanan S.; Kitchener, Andrew C.; Gill, Peter & Linacre, Adrian
(2012).
The development and validation of a single SNaPshot multiplex for tiger species and subspecies identification-Implications for forensic purposes.
Forensic Science International.
ISSN 0379-0738.
6(2),
s. 250–257.
doi:
10.1016/j.fsigen.2011.06.001.
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Phillips, C.; Ballard, D.; Gill, Peter; Court, D. Syndercombe; Carracedo, Á. & Lareu, M.V.
(2012).
The recombination landscape around forensic STRs: Accurate measurement of genetic distances between syntenic STR pairs using HapMap high density SNP data.
Forensic Science International.
ISSN 0379-0738.
6(3),
s. 354–365.
doi:
10.1016/j.fsigen.2011.07.012.
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Gill, Peter; Phillips, Chris; McGovern, Catherine; Bright, Jo-Anne & Buckleton, John
(2012).
An evaluation of potential allelic association between the STRs vWA and D12S391: Implications in criminal casework and applications to short pedigrees.
Forensic Science International: Genetics.
ISSN 1872-4973.
6(4),
s. 477–486.
doi:
10.1016/j.fsigen.2011.11.001.
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Haned, H.; Egeland, Thore; Pontier, D.; Pène, L. & Gill, Peter
(2011).
Estimating drop-out probabilities in forensic DNA samples: A simulation approach to evaluate different models.
Forensic Science International.
ISSN 0379-0738.
5(5),
s. 525–531.
doi:
10.1016/j.fsigen.2010.12.002.
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Puch-Solis, R; Kirkham, A. J.; Gill, Peter; Read, J.; Watson, S & Drew, D.
(2011).
Practical determination of the low template DNA threshold.
Forensic Science International.
ISSN 0379-0738.
5(5),
s. 422–427.
doi:
10.1016/j.fsigen.2010.09.001.
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Gill, Peter & Buckleton, John
(2010).
A universal strategy to interpret DNA profiles that does not require a definition of low-copy-number.
Forensic Science International.
ISSN 0379-0738.
4(4),
s. 221–227.
doi:
10.1016/j.fsigen.2009.09.008.
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Gill, Peter; Bleka, Øyvind; Hansson, Nils Oskar Gunnar; Benschop, Corina C G & Haned, Hinda
(2020).
Forensic Practitioner's Guide to the Interpretation of Complex DNA Profiles, 1st Edition.
Academic Press.
ISBN 9780128205624.
530 s.
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Forensic Practitioner’s Guide to the Interpretation of Complex DNA Profiles places the main concepts of DNA profiling into context and fills a niche that is unoccupied in current literature. The book begins with an introduction to basic forensic genetics, covering a brief historical description of the development and harmonization of STR markers and national DNA databases. The laws of statistics are described, along with the likelihood ratio based on Hardy-Weinberg equilibrium and alternative models considering sub-structuring and relatedness. The historical development of low template mixture analysis, theory and practice, is also described, so the reader has a full understanding of rationale and progression. Evaluation of evidence and statement writing is described in detail, along with common pitfalls and their avoidance.
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Gill, Peter; Hicks, Tacha & Carracedo, Angel
(2025).
The ReAct project: Bayesian networks for assessing the value of the results given activity level propositions.
Forensic Science International: Genetics.
ISSN 1872-4973.
76.
doi:
10.1016/j.fsigen.2025.103223.
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Buckleton, John & Gill, Peter
(2011).
Further Comment on "Low copy number typing has yet to achieve "general acceptance" by Budowle, B., et al, 2009. Forensic Sci. Int. Genetics: Supplement Series 2, 551-552.
Forensic Science International.
ISSN 0379-0738.
5(1),
s. 7–11.
doi:
10.1016/j.fsigen.2010.03.011.
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Gill, Peter; Rowlands, D; Tully, G; Bastisch, I; Staples, T & Scott, Pam
(2010).
Manufacturer contamination of disposable plastic-ware and other reagents-An agreed position statement by ENFSI, SWGDAM and BSAG.
Forensic Science International.
ISSN 0379-0738.
4(4),
s. 269–270.
doi:
10.1016/j.fsigen.2009.08.009.
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Hanssen, Eirik Natås & Gill, Peter
(2018).
Applications of massively parallel sequencing in forensic genetics.
Universitetet i Oslo.
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In forensic genetics, massively parallel sequencing (MPS) has become a realistic alternative to the standard capillary elec-trophoresis. MPS has the potential to both improve DNA-profiling and to provide information beyond the standard DNA-profile. Eirik Nataas Hanssen et al have made efforts to solve two forensic problems by using MPS. Information on type of body fluid can link a DNA-profile closer to the criminal act. However, there is need for new alterna-tives to the traditional tests. Hanssen et al have developed a method that uses microbial composition determined by 16S rRNA gene sequencing and pattern recognition. By using an optimized data handling workflow, the overall accuracy for oral, vaginal, fecal, nasal and skin samples was 96%. Degradation can obstruct the DNA-analysis completely if severe enough. Hanssen et al performed whole genome sequenc-ing on degraded samples and used the sequencing coverage to measure the degradation level. They found that DNA de-grades at an even rate throughout the genome. Even though this finding put a stop to the original intention to target robust regions in order to develop an optimized analysis for degraded DNA, this is still valuable new knowledge.
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Publisert
18. des. 2011 16:51
- Sist endret
20. jan. 2014 12:44