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Forensic Science International. Genetics

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https://www.readbyqxmd.com/read/29783171/ghep-isfg-collaborative-exercise-on-mixture-profiles-ghep-mix06-reporting-conclusions-results-and-evaluation
#1
P A Barrio, M Crespillo, J A Luque, M Aler, C Baeza-Richer, L Baldassarri, E Carnevali, P Coufalova, I Flores, O García, M A García, R González, A Hernández, V Inglés, G M Luque, A Mosquera-Miguel, S Pedrosa, M L Pontes, M J Porto, Y Posada, M I Ramella, T Ribeiro, E Riego, A Sala, V G Saragoni, A Serrano, S Vannelli
One of the main goals of the Spanish and Portuguese-Speaking Group of the International Society for Forensic Genetics (GHEP-ISFG) is to promote and contribute to the development and dissemination of scientific knowledge in the field of forensic genetics. Due to this fact, GHEP-ISFG holds different working commissions that are set up to develop activities in scientific aspects of general interest. One of them, the Mixture Commission of GHEP-ISFG, has organized annually, since 2009, a collaborative exercise on analysis and interpretation of autosomal short tandem repeat (STR) mixture profiles...
May 18, 2018: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/29778045/massively-parallel-sequencing-of-124-snps-included-in-the-precision-id-identity-panel-in-three-east-asian-minority-ethnicities
#2
Jing Liu, Zheng Wang, Guanglin He, Xueying Zhao, Mengge Wang, Tao Luo, Chengtao Li, Yiping Hou
Massively parallel sequencing (MPS) technologies can sequence many targeted regions of multiple samples simultaneously and are gaining great interest in the forensic community. The Precision ID Identity Panel contains 90 autosomal SNPs and 34 upper Y-Clade SNPs, which was designed with small amplicons and optimized for forensic degraded or challenging samples. Here, 184 unrelated individuals from three East Asian minority ethnicities (Tibetan, Uygur and Hui) were analyzed using the Precision ID Identity Panel and the Ion PGM System...
May 15, 2018: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/29778046/evaluation-of-the-microhaplotypes-panel-for-dna-mixture-analyses
#3
Peng Chen, Caiyong Yin, Zheng Li, Yan Pu, Youjia Yu, Peng Zhao, Dexin Chen, Weibo Liang, Lin Zhang, Feng Chen
The identification of a suspect in a DNA mixture typed with the standard short tandem repeat polymorphism (STR) kits has faced challenges. Several improved methods or technologies have been introduced to address this issue. However, some complex situations in the process remain elusive. In the present study, we presented a panel of 26 tiny microhaplotypes, each generating a relatively high (>3.0) effective number of alleles (Ae ) and possessing low (<50 bp) sequence lengths. The average Ae and heterozygosity values among the 9 populations of 26 microhaps were in ranges from 2...
May 12, 2018: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/29793138/computation-of-marginal-distributions-of-peak-heights-in-electropherograms-for-analysing-single-source-and-mixture-str-dna-samples
#4
Robert G Cowell
Current models for single source and mixture samples, and probabilistic genotyping software based on them used for analysing STR electropherogram data, assume simple probability distributions, such as the gamma distribution, to model the allelic peak height variability given the initial amount of DNA prior to PCR amplification. Here we illustrate how amplicon number distributions, for a model of the process of sample DNA collection and PCR amplification, may be efficiently computed by evaluating probability generating functions using discrete Fourier transforms...
May 4, 2018: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/29775859/facilitating-complex-dna-mixture-interpretation-by-sequencing-highly-polymorphic-haplotypes
#5
Lev Voskoboinik, Uzi Motro, Ariel Darvasi
Interpretation of complex DNA mixtures is an ongoing challenge in the field of forensic genetics. Commonly used STR markers are quite polymorphic, enabling very high statistical association between a single source DNA profile from a crime scene and a matching suspect. STR typing of low order mixtures with two and three contributors also commonly produces high statistical association for a contributor, using current interpretation software. However higher order mixtures, with four contributors or more, are more challenging...
May 2, 2018: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/29729851/insertion-within-the-flanking-region-of-the-d10s1237-locus
#6
LETTER
Nicole M M Novroski, August E Woerner, Bruce Budowle
No abstract text is available yet for this article.
April 27, 2018: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/29727813/a-sensitivity-analysis-to-determine-the-robustness-of-strmix%C3%A2-with-respect-to-laboratory-calibration
#7
Hannah Kelly, Jo-Anne Bright, Maarten Kruijver, Stuart Cooper, Duncan Taylor, Kyle Duke, Melissa Strong, Vickie Beamer, Christina Buettner, John Buckleton
STRmix™ uses several laboratory specific parameters to calibrate the stochastic model for peak heights. These are modelled on empirical observations specific to the instruments and protocol used in the analysis. The extent to which these parameters can be borrowed from laboratories with similar technology and protocols without affecting the accuracy of the system is investigated using a sensitivity analysis. Parameters are first calibrated to a publicly available dataset, after which a large number of likelihood ratios are computed for true contributors and non-contributors using both the calibrated parameters and several borrowed parameters...
April 27, 2018: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/29702330/stutter-analysis-of-complex-str-mps-data
#8
Søren B Vilsen, Torben Tvedebrink, Poul Svante Eriksen, Claus Bøsting, Christian Hussing, Helle Smidt Mogensen, Niels Morling
Stutters are common and well documented artefacts of amplification of short tandem repeat (STR) regions when using polymerase chain reaction (PCR) occurring as strands one or more motifs shorter or longer than the parental allele. Understanding the mechanism and rate by which stutters are created is especially important when the samples contain small amounts of DNA or DNA from multiple contributors. It has been shown that there is a linear relationship between the longest uninterrupted stretch (LUS) and the stutter ratio...
April 20, 2018: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/29685746/haplotype-data-of-27-y-strs-analyzed-in-the-hui-and-tujia-ethnic-minorities-from-china
#9
LETTER
Yaju Liu, Shaoqing Wen, Lihong Guo, Rufeng Bai, Meisen Shi, Xuebo Li
No abstract text is available yet for this article.
April 17, 2018: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/29753263/the-hirisplex-s-system-for-eye-hair-and-skin-colour-prediction-from-dna-introduction-and-forensic-developmental-validation
#10
Lakshmi Chaitanya, Krystal Breslin, Sofia Zuñiga, Laura Wirken, Ewelina Pośpiech, Magdalena Kukla-Bartoszek, Titia Sijen, Peter de Knijff, Fan Liu, Wojciech Branicki, Manfred Kayser, Susan Walsh
Forensic DNA Phenotyping (FDP), i.e. the prediction of human externally visible traits from DNA, has become a fast growing subfield within forensic genetics due to the intelligence information it can provide from DNA traces. FDP outcomes can help focus police investigations in search of unknown perpetrators, who are generally unidentifiable with standard DNA profiling. Therefore, we previously developed and forensically validated the IrisPlex DNA test system for eye colour prediction and the HIrisPlex system for combined eye and hair colour prediction from DNA traces...
April 12, 2018: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/29679929/a-phylogenetic-framework-facilitates-y-str-variant-discovery-and-classification-via-massively-parallel-sequencing
#11
Tunde I Huszar, Mark A Jobling, Jon H Wetton
Short tandem repeats on the male-specific region of the Y chromosome (Y-STRs) are permanently linked as haplotypes, and therefore Y-STR sequence diversity can be considered within the robust framework of a phylogeny of haplogroups defined by single nucleotide polymorphisms (SNPs). Here we use massively parallel sequencing (MPS) to analyse the 23 Y-STRs in Promega's prototype PowerSeq™ Auto/Mito/Y System kit (containing the markers of the PowerPlex® Y23 [PPY23] System) in a set of 100 diverse Y chromosomes whose phylogenetic relationships are known from previous megabase-scale resequencing...
April 12, 2018: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/29665468/validation-of-haplotype-specific-extraction-for-separating-a-mitochondrial-dna-model-mixture-and-application-to-simulated-casework
#12
Judith Zander, Petra Otremba, Marion Nagy
Haplotype-specific extraction (HSE) is a new field of application for the separation of mitochondrial DNA (mtDNA) mixtures and is developed to identify the mtDNA haplotypes of the contributors subsequently by sequencing. Here we show the validation of HSE with an exemplary mitochondrial DNA mixture into its individual haplotypes according to our laboratory standards. These specify several critical areas of assay performance to be tested, such as sensitivity, robustness and mixture studies comprising varying proportions of their components,degraded samples and samples of different qualities and material...
April 11, 2018: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/29679928/likelihood-ratio-development-for-mixed-y-str-profiles
#13
Duncan Taylor, James Curran, John Buckleton
In this paper we introduce a new likelihood ratio method for evaluating mixed Y-STR profiles that is based on the premise that, given a haplotype has been seen in the person of interest, the most likely source of a second haplotype, matching at all or most loci, is in an individual with a recent common ancestor. We have called the new method the "Haplotype centred" (HC) method for likelihood ratio derivation. For single source, unambiguous haplotypes the HC method performs identically with the Kappa method proposed by Brenner...
April 7, 2018: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/29677577/dna-typing-of-birch-development-of-a-forensic-str-system-for-betula-pendula-and-betula-pubescens
#14
Monique Wesselink, Aleksandar Dragutinović, Jeroen W Noordhoek, Leonie Bergwerff, Irene Kuiper
Although botanical trace evidence is often encountered in case investigations, the utilization of such traces in forensic investigations is still limited. Development of a forensic STR system for the two species of Betula (birch) indigenous to and abundant in North West Europe is a step in enhancing the applicability of traces from these species. We describe six microsatellite markers developed for birch species in detail, including repeat structure, and we propose a nomenclature for the encountered alleles...
April 7, 2018: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/29673693/profiling-in-wildlife-crime-recovery-of-human-dna-deposited-outside
#15
K Mcleish, S Ferguson, C Gannicliffe, S Campbell, P I T Thomson, L M I Webster
Incidents of bird of prey persecution receive a lot of media coverage in the UK, with investigations rarely recovering sufficient evidence to proceed to prosecution. One of the main challenges is to identify a suspect, as these offences are carried out in remote locations without witnesses, and crime scenes may not be found for days. However, traps, poisoned baits and bird of prey carcasses can be recovered from these crime scenes. This study aimed to determine whether reportable human DNA profiles could be recovered from any of these substrates after periods of time outside...
April 4, 2018: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/29627344/corrigendum-to-development-of-an-italian-rm-y-str-haplotype-database-results-of-the-2013-gefi-collaborative-exercise-forensic-sci-int-genet-15-2015-56-63
#16
C Robino, A Ralf, S Pasino, M R De Marchi, K N Ballantyne, A Barbaro, C Bini, E Carnevali, L Casarino, C Di Gaetano, M Fabbri, G Ferri, E Giardina, A Gonzalez, G Matullo, A L Nutini, V Onofri, A Piccinini, M Piglionica, E Ponzano, C Previderè, N Resta, F Scarnicci, G Seidita, S Sorçaburu-Cigliero, S Turrina, A Verzeletti, M Kayser
No abstract text is available yet for this article.
April 4, 2018: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/29660688/implementation-and-validation-of-an-improved-allele-specific-stutter-filtering-method-for-electropherogram-interpretation
#17
Tim Kalafut, Curt Schuerman, Joel Sutton, Tom Faris, Luigi Armogida, Jo-Anne Bright, John Buckleton, Duncan Taylor
Modern probabilistic genotyping (PG) software is capable of modeling stutter as part of the profile weighting statistic. This allows for peaks in stutter positions to be considered as allelic or stutter or both. However, prior to running any sample through a PG calculator, the examiner must first interpret the sample, considering such things as artifacts and number of contributors (NOC or N). Stutter can play a major role both during the assignment of the number of contributors, and the assessment of inclusion and exclusion...
March 31, 2018: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/29635120/dual-amplification-strategy-for-improved-efficiency-of-forensic-dna-analysis-using-ngm-detect%C3%A2-ngm%C3%A2-or-globalfiler%C3%A2-kits
#18
Agnieszka Parys-Proszek, Maria Wróbel, Magdalena Marcińska, Tomasz Kupiec
The new generation of STR amplification kits with improved sensitivity and additional genetic markers is designed particularly for analyzing difficult traces with a high DNA degradation index, presence of inhibitors and low level of DNA. In the new NGM Detect™ kit, modifications including changing the primers' sequences and shortening of STR markers are introduced. The quality control system (IQCS, IQCL) used to detect DNA degradation and the presence of inhibitors in the sample is an additional feature. The purpose of this study was to compare the results of analysis of different kinds of typical casework samples obtained using NGM™ or GlobalFiler™ kits with those generated using the new NGM Detect™ kit...
March 31, 2018: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/29627762/a-hybrid-approach-to-increase-the-informedness-of-ce-based-data-using-locus-specific-thresholding-and-machine-learning
#19
Michael A Marciano, Victoria R Williamson, Jonathan D Adelman
The interpretation of genetic profiles require a robust and reliable method to discriminate true allelic information from noise, regardless of the instrumentation or methods used. Traditionally, static peak detection thresholds (analytical thresholds) have been applied to capillary electrophoresis generated data to distinguish the true allelic peaks from noise. While the rigid nature of these thresholds attempts to conservatively account for baseline variability across instrument runs, samples, capillaries, dye-channels, injection times, and voltage, its static nature is unable to adapt, leading to a loss of allelic information that exists below the threshold...
March 31, 2018: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/29631895/characterization-of-a-null-tpox-allele-for-ampf%C3%A2-str-%C3%A2-identifiler-%C3%A2-plus-kit
#20
LETTER
Peter Gustav Ristow, Maria Eugenia D'Amato
No abstract text is available yet for this article.
March 30, 2018: Forensic Science International. Genetics
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