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The double-swab technique versus single swabs for human DNA recovery from various surfaces
Publication date: Available online 24 January 2020Source: Forensic Science International: GeneticsAuthor(s): Johannes Hedman, Linda Jansson, Yasmine Akel, Nanny Wallmark, Rebecca Gutierrez Liljestrand, Christina Forsberg, Ricky AnsellAbstractMost crime scene DNA evidence is retrieved using cotton swabs. Since the late 90’s, the double-swab technique has been favoured by many practitioners throughout the world. However, the superiority of double-swabbing over applying single wet swabs has not been broadly verified. Here we set out to evaluate the need for the second dry swab for various surfaces, aiming at mimicking the r...
Source: Forensic Science International: Genetics - January 26, 2020 Category: Forensic Medicine Source Type: research

FrogAncestryCalc: A Standalone Batch Likelihood Computation Tool for Ancestry Inference Panels catalogued in FROG-kb
Publication date: Available online 22 January 2020Source: Forensic Science International: GeneticsAuthor(s): Haseena Rajeevan, Usha Soundararajan, Andrew J. Pakstis, Kenneth K. KiddAbstractThe web-based application, FROG-kb (the Forensic Resource/Reference on Genetics-knowledge base, https://frog.med.yale.edu) supports the use of Single Nucleotide Polymorphisms (SNPs) for individual identification and ancestry inference in a forensic setting. The primary functionality provided by FROG-kb on the web is computation of relative likelihoods of populations being the origin of an individual, utilizing the underlying reference po...
Source: Forensic Science International: Genetics - January 23, 2020 Category: Forensic Medicine Source Type: research

An improved process for the collection and DNA analysis of fired cartridge cases
In this study, we describe both a novel device for the collection and transport of fired cartridge cases and a new DNA recovery method that incorporates a rinse-and-swab technique. This technique combines two different types of swabs and a rinse solution with additives that reduce the degradative effects that copper has on DNA. The new recovery method yielded approximately threefold more DNA than the traditional double swab method and reduced the evidence of degradation. After validation, we estimated the real-world success rate of obtaining DNA profiles suitable for comparison with the rinse-and-swab method by testing ove...
Source: Forensic Science International: Genetics - January 19, 2020 Category: Forensic Medicine Source Type: research

A compilation of tri-allelic SNPs from 1000 Genomes and use of the most polymorphic loci for a large-scale human identification panel
We describe the selection criteria, kinship simulation experiments and genomic analyses used to select the tri-allelic SNP components of the panel. Approximately 5% of the tri-allelic SNPs selected for the large-scale MPS identification panel gave three-genotype patterns in single individual samples or discordant genotypes for genomic control DNAs. A likely explanation for some of these unreliably genotyped loci is that they map to multiple sites in the genome - highlighting the need for caution and detailed scrutiny of multiple-allele variant data when designing future forensic SNP panels, as such patterns can arise from ...
Source: Forensic Science International: Genetics - January 18, 2020 Category: Forensic Medicine Source Type: research

Analysis of complex DNA mixtures using massively parallel sequencing of SNPs with low minor allele frequencies
Publication date: Available online 17 January 2020Source: Forensic Science International: GeneticsAuthor(s): Martha S. Petrovick, Tara Boettcher, Philip Fremont-Smith, Chelsea Peragallo, Darrell O. Ricke, James Watkins, Eric SchwoebelAbstractDNA mixtures from 3 or more contributors have proven difficult to analyze using the current state-of-the-art method of short-tandem repeat (STR) amplification followed by capillary electrophoresis (CE). Here we analyze samples from both laboratory-defined mixtures and complex multi-contributor touch samples using a single nucleotide polymorphism (SNP) panel comprised of 2311 low-minor-...
Source: Forensic Science International: Genetics - January 18, 2020 Category: Forensic Medicine Source Type: research

Whole-genome sequencing of human remains to enable genealogy DNA database searches – A case report
Publication date: Available online 17 January 2020Source: Forensic Science International: GeneticsAuthor(s): Andreas Tillmar, Peter Sjölund, Bo Lundqvist, Therese Klippmark, Cajsa Älgenäs, Henrik GreenAbstractRecently a number of high profile crime cases (e.g. the “Golden State Killer”) have successfully been solved or given new leads with the use of genome wide DNA data in combination with pairwise matching from individuals present in genealogy DNA databases. Such databases will primarily involve distant relatives which in turn require a large amount of genetic information, in the range of several hundred thousand ...
Source: Forensic Science International: Genetics - January 18, 2020 Category: Forensic Medicine Source Type: research

The contribution of DNA databases for stored sexual crimes evidences in the Central of Brazil
Publication date: Available online 17 January 2020Source: Forensic Science International: GeneticsAuthor(s): Carvalho Nígela Rodrigues, Arão Grasielly de Oliveira Lázaro, Lima Yanna Andressa Ramos, Godinho Neide Maria de Oliveira, Mota Mariana Flavia, Gigonzag Thaís Cidália VieiraAbstractAccumulation of sexual assault evidences unsubmitted to forensic DNA testing raises concern and it favors low rates of sexual crimes resolution. However, with the advent of DNA databases, these evidences have provided valuable information for investigations. In Brazil, the use of DNA databases is recent and few studies assessed their ...
Source: Forensic Science International: Genetics - January 18, 2020 Category: Forensic Medicine Source Type: research

Editorial Board
Publication date: March 2020Source: Forensic Science International: Genetics, Volume 45Author(s): (Source: Forensic Science International: Genetics)
Source: Forensic Science International: Genetics - January 18, 2020 Category: Forensic Medicine Source Type: research

Developmental validation of the monSTR identity panel, a forensic STR multiplex assay for massively parallel sequencing
In this study, the panel’s performance was validated according to the recommended validation guidelines of the Scientific Working Group for DNA Analysis Methods (SWGDAM). Concordance, repeatability and reproducibility, sensitivity of detection, mixture analysis, species-specificity, and the ability to analyze mock samples were assessed. Sequence data was analyzed using the genotyping software toaSTR. The assay performance was evaluated by measuring the read on-target ratio, the genotype accuracy, the inter-locus balance, the heterozygosity balance, and the signal-to-noise ratio. Results showed that profiles of NIST refer...
Source: Forensic Science International: Genetics - January 15, 2020 Category: Forensic Medicine Source Type: research

DNA database matches: A p versus np problem
This article is intended to be both a research and a review article, and we end with an in-depth discussion of various arguments that have been brought forward in favour or against either 1/p or 1/(np). (Source: Forensic Science International: Genetics)
Source: Forensic Science International: Genetics - January 1, 2020 Category: Forensic Medicine Source Type: research

Estimation of Y haplotype frequencies with lower order dependencies
Publication date: Available online 24 December 2019Source: Forensic Science International: GeneticsAuthor(s): Mikkel Meyer Andersen, Amke Caliebe, Katrine Kirkeby, Maria Knudsen, Ninna Vihrs, James M. CurranAbstractEstimating Y haplotype population frequencies is a demanding task in forensic genetics. Despite the suggestion of various methods, none these have yet reached a levels of accuracy and precision that is acceptable to the forensic genetics community. At the basis of this problem is the complex dependency structure between the involved STR loci. Here, we approximate this structure by the use of specific graphical m...
Source: Forensic Science International: Genetics - December 25, 2019 Category: Forensic Medicine Source Type: research

Forensic Science International: Genetics Reviewer Hall of Fame 2019
Publication date: Available online 20 December 2019Source: Forensic Science International: GeneticsAuthor(s): Angel Carracedo, Alexander J. Smith (Source: Forensic Science International: Genetics)
Source: Forensic Science International: Genetics - December 22, 2019 Category: Forensic Medicine Source Type: research

Mitochondrial DNA screening by melting curve analysis using peptide nucleic acid probes
Publication date: Available online 19 December 2019Source: Forensic Science International: GeneticsAuthor(s): Kyungmyung Lee, Eu-Ree Ahn, Jae Sin Park, Jin Wook Jung, Si-Keun LimAbstractAnalysis of single nucleotide polymorphisms (SNPs) in mitochondrial (mt)DNA hypervariable regions (HV) 1/2 is valuable in forensic investigations. We developed a method for mtDNA screening of the HV1 and HV2 regions by melting curve analysis, using peptide nucleic acid (PNA) probes. This method focuses on melting peak patterns obtained by thermal dissociation of PNA/DNA duplexes in amplified mtDNA products. Five PNA probe sets were designed...
Source: Forensic Science International: Genetics - December 20, 2019 Category: Forensic Medicine Source Type: research

Biological amplification of low frequency mutations unravels laboratory culture history of the bio-threat agent Francisella tularensis
Publication date: Available online 19 December 2019Source: Forensic Science International: GeneticsAuthor(s): Chinmay Dwibedi, Pär Larsson, Jon Ahlinder, Petter Lindgren, Kerstin Myrtennäs, Malin Granberg, Eva Lundmark, Caroline Öhrman, Andreas Sjodin, Per Stenberg, Mats Forsman, Anders JohanssonAbstractChallenges of investigating a suspected bio attack include establishing if microorganisms have been cultured to produce attack material and to identify their source. Addressing both issues, we have investigated genetic variations that emerge during laboratory culturing of the bacterial pathogen Francisella tularensis. Ke...
Source: Forensic Science International: Genetics - December 20, 2019 Category: Forensic Medicine Source Type: research

Forensic features, genetic diversity and structure analysis of three Chinese populations using 47 autosomal InDels
In this study, 542 unrelated individuals were first genotyped to evaluate the forensic efficiency of this novel panel in three Chinese ethnicities (Hainan Han, Hainan Li and Zunyi Gelao groups). Additionally, genetic relationships among the three investigated populations (geographically close but linguistically different populations: Han and Li; geographically diverse but from the same language family: Li and Gelao) and 31 worldwide populations were analyzed using pairwise genetic distances, multidimensional scaling (MDS), phylogenetic tree, principal component analysis (PCA) and STRUCTURE. The combined powers of discrimin...
Source: Forensic Science International: Genetics - December 18, 2019 Category: Forensic Medicine Source Type: research