Forensic Science International: Genetics Supplement Series This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

How often have X- and Autosomal-STRs mutations equivocal parental origin been assigned?
Short tandem repeat markers (STRs) are widely applied in population, evolutionary, and forensic genetics, due to extensive polymorphism in the number of repetitive motifs. The primary mutational mechanism leading to changes in the length of STRs is thought to be polymerase template slippage. Mutation rates in STRs and corresponding parental assignment are usually assessed through the number of Mendelian incompatibilities observed in one-generational, parent(s)-child, pedigrees, and paternal mutations have been assumed to be preponderant over maternal ones. (Source: Forensic Science International: Genetics Supplement Series)
Source: Forensic Science International: Genetics Supplement Series - September 30, 2022 Category: Forensic Medicine Authors: Sofia Ant ão-Sousa, Eduardo Conde-Sousa, Leonor Gusmão, António Amorim, Nádia Pinto Source Type: research

Targeted Y chromosome capture enrichment in admixed South American samples with haplogroup Q
Y haplogroups, defined by Y-SNPs, allow the reconstruction of the human Y chromosome genealogy. Recently, MPS based panels were introduced in the forensic genetics community for Y-SNP typing and identification of a broad range of haplogroups. The panels are based on an amplicon strategy and allow the detection of up to 15,600 Y-SNPs. The panels target up to 210,000bps, which should be compared to the overall 8.9 Mbps comprising the unique regions of the non-recombining portion of the Y chromosome (NRY). (Source: Forensic Science International: Genetics Supplement Series)
Source: Forensic Science International: Genetics Supplement Series - September 29, 2022 Category: Forensic Medicine Authors: Zehra K öksal, Germán Burgos, Elizeu Carvalho, Humberto Ossa, María Laura Parolin, Alfredo Quiroz, Ulises Toscanini, Carlos Vullo, Claus Børsting, Leonor Gusmão, Vania Pereira Source Type: research

Evaluating population structure of ecuador for forensic str markers
The continuous admixture events among Europeans, Native Americans, and Africans occurred differently throughout the Ecuadorian territory, creating a diversified genetic composition. Therefore, to evaluate how the genetic diversity is partitioned along the country for 15 STRs, 842 admixed-population samples were analyzed. We also evaluated the effect of applying an adjustment for population structure when estimating LRs using a national database. The results showed that to accurately assess forensic evidence, the use of a national database may be justified with the application of an appropriate adjustment for population str...
Source: Forensic Science International: Genetics Supplement Series - September 29, 2022 Category: Forensic Medicine Authors: R. Flores-Espinoza, AN. Angulo-Pozo, A. Garz ón-Salazar, A. Cabrera-Andrade, E. Paz-Cruz, G. Burgos, L. Gusmão Source Type: research

The collapse of an Italian cemetery into the sea: forensic approach to human remains identification
On February 22nd, 2021, a landslide on the Italian coast caused the collapse of an old cemetery. About 370 coffins tumbled and more than 200 fell into the sea.333 groups of unidentified human remains were found: 140 decomposed bodies and 193 bags of commingled skeletal remains.The Medical Staff of Legal and Forensic Medicine was involved for analyzing the remains in order to identify and bury them.The remains involved belonged to people who died between the end of the XIX century and 2017; all were interesting by advanced transformative phenomena. (Source: Forensic Science International: Genetics Supplement Series)
Source: Forensic Science International: Genetics Supplement Series - September 29, 2022 Category: Forensic Medicine Authors: Camilla Tettamanti, Francesca Frigiolini, Rosario Barranco, Sara Lo Pinto, Francesca Stella, Alessandro Belli, Lucia Casarino, Simonetta Verdiani, Francesco De Stefano, Francesco Ventura Source Type: research

Standardization of molecular analysis techniques for dna identification of bird species of the psittacidae family
Birds of the Psittacidae family belong to one of the groups with the most negative impact from wildlife trafficking, which has consequences beyond removing these species from the wild. This work aimed to standardize DNA extraction techniques from blood, feathers, and eggshells of Psittacidae to molecular identification and help track the place of origin of the seized bird. Blood and feather samples from adult of the Turquoise-fronted Parrot, Amazona aestiva, individuals (n=5) were collected, and additionally, eggshells from nests (n=3).We tested five nucleic acid extraction techniques.DNA concentrations and purity were eva...
Source: Forensic Science International: Genetics Supplement Series - September 29, 2022 Category: Forensic Medicine Authors: Dayse A. Silva, Victoria Mendes de Oliveira, Daniela Almeida, Jean Sousa Pinto, Pedro Succo, Gl áucia Helena Fernandes Seixas, Maria Alice S. Alves Source Type: research

Investigation of 74 microhaplotypes for kinship testing in US populations
In this study we investigated the potential of a recently developed 74plex-MH panel for kinship testing using the Familias software. (Source: Forensic Science International: Genetics Supplement Series)
Source: Forensic Science International: Genetics Supplement Series - September 29, 2022 Category: Forensic Medicine Authors: Fabio Oldoni, Chiara Della Rocca, Daniele Podini Source Type: research

Oral and skin microbiome as potential tools in forensic field
The interest in the analysis of the human microbiome for personal identification purposes is based on the microbial diversity amongst individuals. The oral cavity hosts one of the most diverse and abundant microbial communities in the human body; the skin instead is a complex living ecosystem with unique microbial niches at different sites. Both skin and oral microbiomes are highly individual and relatively stable over time. As saliva and skin debris are often found at crime scenes, the analysis of their microbiome may represent a potential tool for personal identification. (Source: Forensic Science International: Genetics Supplement Series)
Source: Forensic Science International: Genetics Supplement Series - September 29, 2022 Category: Forensic Medicine Authors: Flavia Lovisolo, Nengi Ogbanga, Giulia Sguazzi, Filippo Ren ò, Mario Migliario, Andrew Nelson, Noemi Procopio, Sarah Gino Source Type: research

Heterozygosity reduction in children whose parents are closely related
In this study, the impact of consanguineous marriage and inbreeding on heterozygosity was evaluated by comparing levels of heterozygosity in children of closely related parents with those of unrelated parents. Compared to the average expected heterozygosity, the average observed heterozygosity was lower in the children with first-cousin parents. This was not the case in the children with unrelated parents, where an increase in the average observed heterozygosity was noted. Differences in the average heterozygosity between parents-children also observed between related and unrelated parents. (Source: Forensic Science Intern...
Source: Forensic Science International: Genetics Supplement Series - September 29, 2022 Category: Forensic Medicine Authors: Sasitaran Iyavoo, Michalis Mavrommatis, Simon Knights, Tatiana Petrova, Abigail Bevan, Stephen Cummings, Thomas Haizel Source Type: research

The effect of freezing, thawing and long-term storage on forensic DNA extracts
In this study the effects of freezing and thawing as well as long-term storage of DNA extracts in refrigerator or freezer have been investigated. The following sample types were extracted: two levels of blood and saliva, saliva on cigarette filter paper, saliva on cotton swabs and a combination of saliva and semen to mimic samples from sexual assaults. (Source: Forensic Science International: Genetics Supplement Series)
Source: Forensic Science International: Genetics Supplement Series - September 29, 2022 Category: Forensic Medicine Authors: Christina Forsberg, Lina Pettersson, Lina Boiso Source Type: research

Calculation and implementation of sample-wide stochastic thresholds for forensic genetic analysis of STRs and SNPs for massively parallel sequencing platforms
Capillary electrophoresis (CE) analysis of short tandem repeats (STRs) and single nucleotide polymorphisms (SNPs) use a stochastic threshold to consider the possibility of missing alleles (dropouts) or detecting additional alleles (drop-ins). In CE, this threshold may be approximately 200 RFU, and peak heights are assessed relative to this threshold. In next generation sequencing (NGS), also known as massively parallel sequencing (MPS), STRs are identified by their sequence, and specific alleles are identified by their repeat number and intra-allelic variation. (Source: Forensic Science International: Genetics Supplement Series)
Source: Forensic Science International: Genetics Supplement Series - September 29, 2022 Category: Forensic Medicine Authors: Kathryn Stephens, June Snedecor, Bruce Budowle Source Type: research

Detection and Analyses of Latent DNA
Latent DNA detection has the potential to transform aspects of DNA collection at scenes and from items. In the absence of being able to visualise the location of cellular material, all collection of samples at crime scenes is currently performed blind. With the advent of the application of a nucleic acid staining dye, the DNA within skin cells (commonly called keratinocytes and corneocytes) can be visualised. Diamond Dye fluoresces when it binds to the backbone of DNA. This fluorescence can be recorded using a simple mini-microscope allowing the location and number of cells to be recorded. (Source: Forensic Science Interna...
Source: Forensic Science International: Genetics Supplement Series - September 29, 2022 Category: Forensic Medicine Authors: Adrian Linacre, Piyamas Petcharoen Source Type: research

Introduction of the python script MHinNGS for analysis of microhaplotypes
MHinNGS is a Python application developed for analysis of microhaplotypes (MHs) in single-end sequencing data. MHinNGS analyses reads in standard formats and store each sequence into bins, one bin for each MH as defined by the two flanking sequences. MHinNGS requires a reference genome and a configuration file with information about each locus. Four mandatory and 15 optional criteria defined in the configuration file allow detailed locus-specific analyses of the MH loci. The program 1) removes noise, 2) identify and name alleles, 3) test the genotypes, and 4) test unique sequences not identified as noise or alleles. (Sourc...
Source: Forensic Science International: Genetics Supplement Series - September 29, 2022 Category: Forensic Medicine Authors: Carina G. J ønck, Claus Børsting Source Type: research

Orogen: Advanced relationship predictions for genetic genealogy
Orogen advances the science of relationship prediction by using Ped-sim, which improves upon previous models by incorporating crossover interference and sex-specific genetic maps. The Orogen tool provides accurate relationship predictions for a wide range of relationship types. It properly differentiates between close relatives at 23andMe, which is a newly available functionality for standalone tools. It provides new granularity of close relationships by showing the differences between paternal and maternal sides and in-group relationship types. (Source: Forensic Science International: Genetics Supplement Series)
Source: Forensic Science International: Genetics Supplement Series - September 28, 2022 Category: Forensic Medicine Authors: Brit Nicholson Source Type: research

Association between copy number variations in the OCA2-HERC2 locus and human eye colour
Human eye colour variation is strongly associated with single nucleotide polymorphisms (SNPs) in the OCA2-HERC2 locus, especially rs12913832 that is found in an enhancer element of OCA2. In a previous study we found that 43 out of 166 individuals in a Norwegian population with the brown eye colour genotype HERC2 rs12913832:AA or AG, did not have the expected brown eye colour. To investigate if duplications or deletions in the OCA2-HERC2 locus could explain the blue eye colour in these individuals, we analysed massively parallel sequencing (MPS) data for copy number variations (CNVs) in the OCA2-HERC2 region. (Source: Foren...
Source: Forensic Science International: Genetics Supplement Series - September 28, 2022 Category: Forensic Medicine Authors: Nina Mj ølsnes Salvo, Kirstin Janssen, Gunn-Hege Olsen, Thomas Berg, Jeppe Dyrberg Andersen Source Type: research

Analysis of genetic polymorphisms associated with the presence of freckles for phenotypic prediction
The prediction of externally visible characteristics (EVCs) is a commonly used practice by the forensic sciences as an important resource in the investigation of criminal cases in which the identity of perpetrators or victims is unknown or even to recognize decomposed cadavers. With this purpose, genetic markers associated with pigmentation traits have been widely studied by forensic scientists and, nowadays, it is possible to predict phenotypic characteristics such as hair, eyes and skin colour, as well as the presence of skin freckles by analysing single nucleotide polymorphisms (SNPs). (Source: Forensic Science Internat...
Source: Forensic Science International: Genetics Supplement Series - September 28, 2022 Category: Forensic Medicine Authors: Cintia Fridman, Marcelo Alves Ferreira, Leonardo Arduino Marano, Bettina Stingelin Forlenza Source Type: research