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Ysurnames? The patrilineal Y-chromosome and surname correlation for DNA kinship research
Publication date: Available online 9 November 2019Source: Forensic Science International: GeneticsAuthor(s): Sofie Claerhout, Jennifer Roelens, Michiel Van der Haegen, Paulien Verstraete, Maarten H.D. Larmuseau, Ronny DecorteAbstractThe Y-chromosome is a widely studied and useful small part of the genome providing different applications for interdisciplinary research. In many (Western) societies, the Y-chromosome and surnames are paternally co-inherited, suggesting a corresponding Y-haplotype for every namesake. While it has already been observed that this correlation may be disrupted by a false-paternity event, adoption, ...
Source: Forensic Science International: Genetics - November 10, 2019 Category: Forensic Medicine Source Type: research

Understanding the characteristics of sequence-based single-source DNA profiles
Publication date: Available online 9 November 2019Source: Forensic Science International: GeneticsAuthor(s): Sarah Riman, Hari Iyer, Lisa A. Borsuk, Peter M. ValloneAbstractThe sequencing of STR markers provides additional information present in the underlying sequence variation that is typically masked by traditional fragment-based genotyping. However, the interpretation of STR profiles generated by targeted sequencing methods are susceptible to the same factors encountered in profiles processed through capillary gel electrophoresis. These factors include stochastic variation, noise, stutter artifacts, heterozygote imbala...
Source: Forensic Science International: Genetics - November 9, 2019 Category: Forensic Medicine Source Type: research

Analysis of a DNAmixture case involving Romani reference populations
Publication date: Available online 9 November 2019Source: Forensic Science International: GeneticsAuthor(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...
Source: Forensic Science International: Genetics - November 9, 2019 Category: Forensic Medicine Source Type: research

Mitochondrial DNA variation in Sub-Saharan Africa: forensic data from a mixed West African sample, Côte d’Ivoire (Ivory Coast), and Rwanda
This study provides 398 novel complete mitochondrial control region sequences that augment the still underrepresented data from Africa by three datasets: a mixed West African sample set deriving from 12 countries (n = 145) and datasets from Côte d’Ivoire (Ivory Coast) (n = 100) as well as Rwanda (n = 153). The analysis of mtDNA variation and genetic comparisons with published data revealed low random match probabilities in all three datasets and typical West African and East African diversity, respectively. Genetic parameters indicate that the presented mixed West African dataset may serve as first forensic ...
Source: Forensic Science International: Genetics - November 9, 2019 Category: Forensic Medicine Source Type: research

Reverse Complement PCR: A Novel One-Step PCR System for Typing Highly Degraded DNA for Human Identification
Publication date: Available online 6 November 2019Source: Forensic Science International: GeneticsAuthor(s): Rachel E. Kieser, Magdalena M. Buś, Jonathan L. King, Walter van der Vliet, Joop Theelen, Bruce BudowleAbstractReverse Complement PCR (RC-PCR) is an innovative, one-step PCR target enrichment technology adapted for the amplification of highly degraded (fragmented) DNA. It provides simultaneous amplification and tagging of a targeted sequence construct in a single, closed-tube assay. A human identification (HID) RC-PCR panel was designed targeting 27 identity single nucleotide polymorphisms (SNPs) generating targets...
Source: Forensic Science International: Genetics - November 8, 2019 Category: Forensic Medicine Source Type: research

PIMA: A population informative multiplex for the Americas
This study centered on choosing SNPs with the specific characteristics of: 1) extreme allele frequency differences between indigenous Americans and the African, European and East Asian population groups that contribute to present-day population variation in the Americas; 2) high informativeness-for-assignment In values; and 3) well-spaced genomic distribution and chromosomal separation from existing small-scale forensic ancestry marker sets. The resulting capillary electrophoresis SNaPshot single base extension test was named: PIMA (Population Informative Multiplex for the Americas), comprising 26 autosomal SNPs, a single ...
Source: Forensic Science International: Genetics - November 6, 2019 Category: Forensic Medicine Source Type: research

Structuring cases into propositions, assumptions, and undisputed case information
Publication date: Available online 6 November 2019Source: Forensic Science International: GeneticsAuthor(s): Duncan Taylor, Bas Kokshoorn, Tacha HicksAbstractIn this short publication we address the topic of evaluation of biological results given activity level propositions, particularly when the source of the biological material is not in question. When the issue regards the mechanisms or actions that led to the deposition of the biological material concerned, there is a need for more case information than when the issue pertains to the source of the DNA. It is up to the scientist to structure the provided case informatio...
Source: Forensic Science International: Genetics - November 6, 2019 Category: Forensic Medicine Source Type: research

Response to: Commentary on: Bright et al. (2018) Internal validation of STRmix™ – a multi laboratory response to PCAST, Forensic Science International: Genetics, 34: 11–24
Publication date: Available online 4 November 2019Source: Forensic Science International: GeneticsAuthor(s): John S. Buckleton, Jo-Anne Bright, Anne Ciecko, Maarten Kruijver, Benjamin Mallinder, Alan Magee, Simon Malsom, Tamyra Moretti, Steven Weitz, Todd Bille, Sarah Noël, Rachel H. Oefelein, Brian Peck, Timothy Kalafut, Duncan A. Taylor (Source: Forensic Science International: Genetics)
Source: Forensic Science International: Genetics - November 6, 2019 Category: Forensic Medicine Source Type: research

Whole mitochondrial genome analysis of highland Tibetan ethnicity using massively parallel sequencing
In this study, 119 Tibetan individuals from the Muli Tibetan Autonomous County of China (average altitude above 3,000 meters) were employed in mitochondrial genome (mitogenome) sequencing by massively parallel sequencing (MPS) techniques using the Precision ID mtDNA Whole Genome Panel on an Ion S5XL system. The dataset presented 88 distinct haplotypes, resulting in the haplotype diversity of 0.9909. The majority of haplotypes were assigned to East Asian lineages and the distribution of haplogroups of Muli Tibetan significantly differed from reference Tibetan populations. The maximum parsimony phylogeny reconstructed by 119...
Source: Forensic Science International: Genetics - November 4, 2019 Category: Forensic Medicine Source Type: research

ATR-FTIR spectroscopy combined with data manipulation as a pre-screening method to assess DNA preservation in skeletal remains
In this study, ATR-FTIR spectroscopy with further data exploration was employed to characterize the physicochemical structure of the samples and its correlation with the preservation state of the DNA. The aim was to test the hypothesis that ATR-FTIR–obtained spectra contain enough information to allow classification of the samples based on the preservation of the DNA in the remains.In the study, 138 human bones and teeth originating from the 16th century BC to the 21 st century AD were used. The samples were cleaned and powdered following the established methodological procedures for DNA extraction. DNA was extracted a...
Source: Forensic Science International: Genetics - November 4, 2019 Category: Forensic Medicine Source Type: research

Looking for the pinpoint: Optimizing identification, recovery and DNA extraction of micro traces in forensic casework
Publication date: Available online 1 November 2019Source: Forensic Science International: GeneticsAuthor(s): Lisa Dierig, Max Schmidt, Peter WiegandAbstractMany challenges are encountered in the analysis of micro traces such as touch DNA or telogen hair samples. Although DNA typing methods have become immensely more sensitive over the last years, recovery of the minute amounts of biological material in micro traces requires further enhancement. For example felony cases, where an offender oftentimes only contributes minor amounts of touch DNA, separation of victim and offender DNA poses difficulties. Whereas complete sampli...
Source: Forensic Science International: Genetics - November 3, 2019 Category: Forensic Medicine Source Type: research

Inter and intra-individual variation in skeletal DNA preservation in buried remains
Publication date: Available online 31 October 2019Source: Forensic Science International: GeneticsAuthor(s): Alexandra L. Emmons, Jonathan Davoren, Jennifer M. DeBruyn, Amy Z. MundorffAbstractOur ability to identify skeletal remains often relies on the quality and quantity of DNA extracted from bone and teeth. Current research on buried remains has been retrospective, and no study to our knowledge has comprehensively assessed both intra-individual and inter-individual variation in human skeletal DNA from all representative skeletal element types recovered from a burial. Three individuals were interred together in a single ...
Source: Forensic Science International: Genetics - November 1, 2019 Category: Forensic Medicine Source Type: research

Maternal perspective of Croatian genetic diversity
Publication date: Available online 31 October 2019Source: Forensic Science International: GeneticsAuthor(s): Lucija Barbarić, Korana Lipovac, Viktorija Sukser, Sara Rožić, Marina Korolija, Bettina Zimmermann, Walther Parson (Source: Forensic Science International: Genetics)
Source: Forensic Science International: Genetics - October 31, 2019 Category: Forensic Medicine Source Type: research

Forensic STR allele extraction using a machine learning paradigm
We present a machine learning approach to short tandem repeat (STR) sequence detection and extraction from massively parallel sequencing data called Fragsifier. Using this approach, STRs are detected on each read by first locating the longest repeat stretches followed by locus prediction using k-mers in a machine learning sequence model. This is followed by reference flanking sequence alignment to determine precise STR boundaries. We show that Fragsifier produces genotypes that are concordant with profiles obtained using capillary electrophoresis (CE), and also compared the results with that of STRait Razor and the ForenSe...
Source: Forensic Science International: Genetics - October 29, 2019 Category: Forensic Medicine Source Type: research

Editorial Board
Publication date: November 2019Source: Forensic Science International: Genetics, Volume 43Author(s): (Source: Forensic Science International: Genetics)
Source: Forensic Science International: Genetics - October 26, 2019 Category: Forensic Medicine Source Type: research