Utility of genetic variation in coat color genes to distinguish wild, domestic and hybrid South American camelids for forensic and judicial applications
We describe a workflow that differentiates among wild, domestic and hybrid South American camelids (Lama versus Vicugna) based on mitochondrial cytochrome b genetic variation (to distinguish between Lama and Vicugna), and MC1R and exon 4 variation of the ASIP gene (to differentiate wild from domestic species). Additionally, we infer the population origin and sex of each of the three individuals from a panel of 15 autosomal microsatellite loci and the presence or absence of the SRY gene. Our analyses strongly supported the inference that the confiscated carcasses corresponded with 2 male and 1 female guanacos that were hunt...
Source: Forensic Science International: Genetics - December 13, 2019 Category: Forensic Medicine Source Type: research

Characterizing stutter variants in forensic STRs with massively parallel sequencing
In conclusion, with massively parallel sequencing technology and our sequence simplification strategy, sequence variations within alleles and stutter products were identified, which was useful to determine the origin of stutters, identify more stutter variants, and explore the relationships among motifs. These findings may be helpful for allele designation, a deeper understanding of the mechanism of stutter, and improving resolution in forensic mixture analyses. (Source: Forensic Science International: Genetics)
Source: Forensic Science International: Genetics - December 10, 2019 Category: Forensic Medicine Source Type: research

Editorial Board
Publication date: January 2020Source: Forensic Science International: Genetics, Volume 44Author(s): (Source: Forensic Science International: Genetics)
Source: Forensic Science International: Genetics - December 6, 2019 Category: Forensic Medicine Source Type: research

Comparison of CE- and MPS-based analyses of forensic markers in a single cell after whole genome amplification
In this study, cell lines consisting of female cultured B-lymphoblastoid cells and karyocytes from male venous blood were segregated into one, two, three and five cells. Including the references with the bulk cells, all samples were generated by WGA with the multiple displacement amplification (MDA) strategy in triplicate and genotyped on CE and MPS platforms. Allele balance, stutter ratio, accuracy, repeatability and concordance of short tandem repeat (STR) markers were used to evaluate the genotyping performance on both platforms. Additionally, the sequence coverage ratio (SCR) and SNP genotypes were evaluated for sequen...
Source: Forensic Science International: Genetics - December 1, 2019 Category: Forensic Medicine Source Type: research

Building a custom large-scale panel of novel microhaplotypes for forensic identification using MiSeq and Ion S5 massively parallel sequencing systems
Publication date: Available online 30 November 2019Source: Forensic Science International: GeneticsAuthor(s): M. de la Puente, C. Phillips, C. Xavier, J. Amigo, Á. Carracedo, W. Parson, M.V. LareuAbstractA large number of new microhaplotype loci were identified in the human genome by applying a directed search with selection criteria emphasizing short haplotype length (<120 nucleotides) and maximum levels of polymorphism in the composite SNPs. From these searches, 107 autosomal microhaplotypes and 11 X chromosome microhaplotypes were selected, with well-spaced autosomal positions to ensure their independence in relati...
Source: Forensic Science International: Genetics - December 1, 2019 Category: Forensic Medicine Source Type: research

Analysis of a DNA mixture involving Romani reference populations
Publication date: January 2020Source: Forensic Science International: Genetics, Volume 44Author(s): Francesco Dotto, Julia Mortera, Laura Baldassarri, Vincenzo PascaliAbstractHere we present an Italian criminal case that shows how statistical methods can be used to extract information from a series of mixed DNA profiles. The case involves several different individuals and a set of different DNA traces. The case possibly involves persons of interest of a small population of Romani origin. First, a brief description of the case is provided. Secondly, we introduce some heuristic tools that can be used to evaluate the data and...
Source: Forensic Science International: Genetics - November 29, 2019 Category: Forensic Medicine Source Type: research

A multivariate statistical approach for the estimation of the ethnic origin of unknown genetic profiles in forensic genetics
Publication date: Available online 27 November 2019Source: Forensic Science International: GeneticsAuthor(s): Eugenio Alladio, Chiara Della Rocca, Filippo Barni, Jean-Michel Dugoujon, Paolo Garofano, Ornella Semino, Andrea Berti, Andrea Novelletto, Marco Vincenti, Fulvio CrucianiGraphical abstract (Source: Forensic Science International: Genetics)
Source: Forensic Science International: Genetics - November 28, 2019 Category: Forensic Medicine Source Type: research

Get it off, but keep it: Efficient cleaning of hair shafts with parallel DNA extraction of the surface stain
Publication date: Available online 26 November 2019Source: Forensic Science International: GeneticsAuthor(s): Jana Naue, Timo Sänger, Sabine Lutz-BonengelAbstractThe analysis of hair samples is a common task in forensic investigations. Material transferred to the surface of a hair during a crime challenges the analysis as it has to be removed efficiently. However, the removal of the stain can also lead to a loss of information on stain contributors. DNA analysis of the stain itself might thus be helpful for the forensic investigation. The aim of this study was the examination of different methods to remove common biologic...
Source: Forensic Science International: Genetics - November 27, 2019 Category: Forensic Medicine Source Type: research

Investigation of direct and indirect transfer of microbiomes between individuals
Publication date: Available online 27 November 2019Source: Forensic Science International: GeneticsAuthor(s): Ana Neckovic, Roland A.H. van Oorschot, Bianca Szkuta, Annalisa DurdleAbstractThe human microbiome encompasses the fungi, bacteria and viruses that live on, within, and immediately surrounding the body. Microbiomes have potential utility in forensic science as an evidentiary tool to link or exclude persons of interest associated with criminal activities. Research has shown the microbiome is individualised, and that personal microbial signatures can be recovered from surfaces such as phones, shoes and fabrics. Befor...
Source: Forensic Science International: Genetics - November 27, 2019 Category: Forensic Medicine Source Type: research

Body fluid identification and assignment to donors using a targeted mRNA massively parallel sequencing approach – results of a second EUROFORGEN / EDNAP collaborative exercise
Publication date: Available online 26 November 2019Source: Forensic Science International: GeneticsAuthor(s): S. Ingold, G. Dørum, E. Hanson, D. Ballard, A. Berti, K.B. Gettings, F. Giangasparo, T.M.-L. Kampmann, F.-X. Laurent, N. Morling, W. Parson, C.R. Steffen, A. Ulus, M. van den Berge, K.J. van der Gaag, V. Verdoliva, C. Xavier, J. Ballantyne, C. HaasAbstractIn a previous EUROFORGEN/EDNAP collaborative exercise, we tested two assays for targeted mRNA massively parallel sequencing for the identification of body fluids/tissues, optimized for the Illumina MiSeq/FGx and the Ion Torrent PGM/S5 platforms, respectively. The...
Source: Forensic Science International: Genetics - November 26, 2019 Category: Forensic Medicine Source Type: research

A Novel Loop-mediated Isothermal Amplification Method for Identification of Four Body Fluids with Smart Phone Detection
Publication date: Available online 23 November 2019Source: Forensic Science International: GeneticsAuthor(s): Kimberly R. Jackson, Tiffany Layne, David A. Dent, Anchi Tsuei, Jingyi Li, Dorris M. Haverstick, James P. LandersAbstractMessenger RNA profiling for body fluid identification (bfID) is a useful approach to collect contextual information associated with a crime. Current methods require costly fluorescent probes, lengthy amplification protocols and/or time-consuming sample preparation. To simplify this process, we developed a bfID method that has the potential to be rapid in analysis time, inexpensive and fluorescenc...
Source: Forensic Science International: Genetics - November 24, 2019 Category: Forensic Medicine Source Type: research

Characterization of ancestry informative markers in the Tigray population of Ethiopia: a contribution to the identification process of dead migrants in the Mediterranean Sea
In this study, two assays consisting of 46 AIM-Indels and 31 AIM-SNPs were typed in a Tigray population sample from Northern Ethiopia. STRUCTURE analysis showed that the Tigray population is characterized by a strong (˜50%) non-African genetic component shared with European and Middle Eastern populations. The intermediate position of the Tigray sample between sub-Saharan African and European / Middle Eastern reference population samples was confirmed by principal component analysis. Both AIM panels provided effective differentiation between Tigray and sub-Saharan African populations. Classification accuracy of other popul...
Source: Forensic Science International: Genetics - November 21, 2019 Category: Forensic Medicine Source Type: research

Ocular swabs on exhumed bodies: an alternative to the collection of “classical” tissue samples in forensic genetics
We present the results obtained on DNA extracted from ocular (scleral/corneal) swabs collected from exhumed bodies at different times of burial.To our knowledge, there are no publications in the scientific forensic literature dealing with sclera/cornea as a source of DNA in the forensic laboratory.The obtained results demonstrate that cornea/sclera swabbing might be a promising alternative to the sampling of other tissues for DNA extraction even in highly putrefied bodies. (Source: Forensic Science International: Genetics)
Source: Forensic Science International: Genetics - November 18, 2019 Category: Forensic Medicine Source Type: research

DNA detection of a temporary and original user of an office space
Publication date: Available online 11 November 2019Source: Forensic Science International: GeneticsAuthor(s): Mariya Goray, Bas Kokshoorn, Kristy Steensma, Bianca Szkuta, Roland A.H. van OorschotAbstractThere is a need to improve our awareness of the transfer, persistence, prevalence and recovery of DNA (DNA-TPPR) from items/surfaces, and within different spaces and circumstances, to assist sample targeting during collection and activity level assessments. Here we investigate DNA-TPPR within office spaces. Specifically, to what extent DNA, left by a temporary user of an office space that has been occupied by a regular user...
Source: Forensic Science International: Genetics - November 12, 2019 Category: Forensic Medicine Source Type: research

Impact of the Sequencing Method on the Detection and Interpretation of Mitochondrial DNA Length Heteroplasmy
Publication date: Available online 10 November 2019Source: Forensic Science International: GeneticsAuthor(s): Kimberly Sturk-Andreaggi, Walther Parson, Marie Allen, Charla MarshallAbstractAdvancements in sequencing technologies allow for rapid and efficient analysis of mitochondrial DNA (mtDNA) in forensic laboratories, which is particularly beneficial for specimens with limited nuclear DNA. Next generation sequencing (NGS) offers higher throughput and sensitivity over traditional Sanger-type sequencing (STS) as well as the ability to quantitatively analyze the data. Changes in sample preparation, sequencing method and ana...
Source: Forensic Science International: Genetics - November 12, 2019 Category: Forensic Medicine Source Type: research