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.

Haplogroup Prediction in the Ghanaian Population using Haplotype data of 27 Yfiler ® Plus loci and TaqMan SNP Genotyping
This study describes the use of the 27 loci Yfiler ® Plus kit and TaqMan™ SNP genotyping to characterise and predict the haplogroups of Y chromosomes within the four major ethnic populations of Ghana. Haplogroups were assigned using the desktop NevGen software (https://www.nevgen.org/). The E1b1a and E1b1b haplogroups are the most common in the G hanaian population and form 95% of the dataset. The Mole-Dagomba sub-population had 4. 8% assigned to the haplogroups G, H, R1b, R2 and T. The Ewe had two samples assigned to haplogroups C and D whilst the Akan had one sample each assigned to haplogroups B, J1 and J2. (Source: ...
Source: Forensic Science International: Genetics Supplement Series - October 6, 2022 Category: Forensic Medicine Authors: Pet-Paul Wepeba, Chrissie S. Abaidoo, William H. Goodwin Source Type: research

Evaluating probabilistic genotyping for low-pass DNA sequencing
Most genomic methods consider the sample genotype. Data are evaluated at some location, and if the signal strength is sufficient, a genotype call is made. Conversely, sites that lack sufficient signal are treated as missing data. Such methods for genotype calling are binary, and this dichotomy limits genomic analyses to relatively high-coverage (and high-cost) massively parallel sequencing (MPS) data. It follows that bioinformatic methods that rely on genotypes may not be ideal for trace DNA samples, such as those sometimes encountered in forensic investigations, but even when applicable such analyses can be expensive. (So...
Source: Forensic Science International: Genetics Supplement Series - October 6, 2022 Category: Forensic Medicine Authors: Sammed N. Mandape, Kapema Bupe Kapema, Tiffany Duque, Amy Smuts, Jonathan L. King, Benjamin Crysup, Jianye Ge, Bruce Budowle, August E. Woerner Source Type: research

Null allele can bring to interpretative problems in a deficitary paternity case
In this study, a woman (ZAM) wanted to know whether a man (PGAF) was the father of her child (ZGC). During the court settlement, PGAF died. PGAF ’s parents refused to undergo DNA investigation and denied the access to biological fragments from their dead son. Although, DNA specimens were obtained from buccal swabs of ZAM, ZGC and PGAF’s paternal sister (PTFS). (Source: Forensic Science International: Genetics Supplement Series)
Source: Forensic Science International: Genetics Supplement Series - October 6, 2022 Category: Forensic Medicine Authors: Aldo Di Nunzio, Nadia Tinto, Fernanda Iafusco, Angelica Zibetti, Pietrantonio Ricci, Ciro Di Nunzio Source Type: research

Comparisons between Japanese and Han Chinese populations for 261 autosomal STR loci
In this study, Japanese and Han Chinese individuals (n=32, each) were genotyped for 261 autosomal STRs, and allele frequencies were calculated for each locus in each population. The average number of alleles for all loci in Japanese and Han Chinese populations was 6.65 and 6.56, respectively. The tests for deviations from HWE performed using an exact test showed that the number of STRs (P> 0.05) in Japanese and Han Chinese populations was 236 and 241, respectively. Calculation of forensic parameters showed heterozygosity, and the exclusion means in the Japanese population were 0.7185 and 4813 and those in the Han Chinese p...
Source: Forensic Science International: Genetics Supplement Series - October 6, 2022 Category: Forensic Medicine Authors: T. Yamamoto, K. Doi, R. Fukami, T. Yoshimoto, Y. Natori, A. Ishii Source Type: research

Comparisons of Protocols for Enhanced DNA Profile Quality from FTA ® -Deposited Urine Samples
Disputes over the identity of a urine sample donor have been reported, and urine authentication by genetic profiling has helped resolved the cases. However, since genotyping of urine is not always required, many drug-testing laboratories may face sample storage issues. Several studies have investigated the use of FTA ® cards as a convenient tool for keeping specimen at room temperature for extended periods of time. However, generating complete STR profile from some FTA®-deposited urine samples remains challenging due to low levels of genetic material content, necessitating amendments to the laboratory’s stan dard proto...
Source: Forensic Science International: Genetics Supplement Series - October 6, 2022 Category: Forensic Medicine Authors: Korapin Srisiri, Tikumphorn Sathirapatya, Achirapa Bandhaya Source Type: research

Paternal half-sisters or unrelated - How can the X-chromosomal evidence be quantified when one female presents trisomy X?
The X chromosome has unique features, such as haplodiploid mode of genetic transmission, which can be crucial to complement autosomal profiling or to disentangle complex kinship problems. Indeed, for some cases (e.g. full- or paternal half-sisters, or paternal grandmother-granddaughter hypotheses), X-markers are expected to provide a similar or a higher power to the one obtained with autosomes in paternity/maternity investigations. Both theoretical and informatics frameworks for pairwise X-linked kinship analyses are well established for individuals with a regular number of chromosomes, but these are still lacking for indi...
Source: Forensic Science International: Genetics Supplement Series - October 6, 2022 Category: Forensic Medicine Authors: Marisa Faustino, Chiara Turchi, Daniel Kling, Leonor Gusm ão, António Amorim, Nádia Pinto Source Type: research

DNA-based identification of big cats and traditional Chinese medicine artifacts in the Czech Republic
The aim of this study is to provide an overview of ongoing research on and the development of identification tools for big cats (Panthera tigris, Panthera leo, Panthera pardus, …). The set of tools includes a species-specific RTPCR quantitation system (nuclear and mitochondrial), STR multiplexes, a rapid system for big cat species determination, and a database solution. (Source: Forensic Science International: Genetics Supplement Series)
Source: Forensic Science International: Genetics Supplement Series - October 6, 2022 Category: Forensic Medicine Authors: L. Vankova, D. Vanek Source Type: research

Analysis of ethnic origin asymmetries in uniparental lineages in Argentinian population
With the aim to study Argentinian ethnic structure and its miscegenation, we analyzed the mitochondrial DNA (mtDNA) and Y-chromosome Short Tandem Repeats (Y-STR) of 1580 blood samples from male donors. Our results showed that the population has a greater presence of Native American lineages on the maternal side (68.73%) regarding the paternal line (4.18%), alongside a majority of Eurasian origins in the paternal line (92.47%). From the independence analysis, a significant difference was observed when compared with that expected by random crossings. (Source: Forensic Science International: Genetics Supplement Series)
Source: Forensic Science International: Genetics Supplement Series - October 6, 2022 Category: Forensic Medicine Authors: Florencia Gagliardi, Mart ín Iungman, Luciana Rabitti, Malena Canteros, Mariana Herrera Piñero, Nicolás Furman Source Type: research

Bayesian networks for DNA-based kinship analysis: Functionality and validation of the GENis missing person identification module
GENis is a recently published open-source multi-tier information system developed to run forensic DNA databases. It relies on a Bayesian Networks framework and it is particularly well suited to efficiently perform large-size queries against databases of missing individuals. In this contribution we present a validation of the missing person identification capabilities of GENis. To that end we introduce fbnet, a free-software package written in the R statistical language that implements the complete GENis functionality to perform kinship analysis based on DNA profiles. (Source: Forensic Science International: Genetics Supplement Series)
Source: Forensic Science International: Genetics Supplement Series - October 6, 2022 Category: Forensic Medicine Authors: Ariel Chernomoretz, Franco Marsico, Javier Iserte, Mariana Herrera Pi ñero, Maria Soledad Escobar, Manuel Balparda, Gustavo Sibilla Source Type: research

“Evaluation of genetic markers for the analysis of THC levels of Cannabis sativa samples using principal component analysis – a preliminary study”
In this study, principal component analysis (PCA), an exploratory data analysis technique, was tested to correlate the specific genotype with the concentration of tetrahydrocannabinol (THC) in the samples. C. sativa samples were obtained from legal growers in Piedmont, Italy, and from illegal drug seizures in the Turin region. (Source: Forensic Science International: Genetics Supplement Series)
Source: Forensic Science International: Genetics Supplement Series - October 6, 2022 Category: Forensic Medicine Authors: S. Cisana, M. Omedei, M. Di Nunzio, F. Seganti, V. Brenzini, A. Coppi, A. Berti, C. Di Nunzio, P. Garofano, E. Alladio Source Type: research

Accumulation of population polymorphisms in the mitonuclear genome with probable adaptive effect to extreme environments as altitude for forensic purposes
We analyzed the accumulation of population polymorphism in 2504 individuals - nuclear genomes (nDNA) of 26 populations (81 genes associated to extreme environments) and 3295 mitochondrial genomes (mtDNA) of 47 populations with the aim to found mitonuclear relationship associated an extremes environment as altitude. For that, we use an algorithm developed by us to determine the accumulation of polymorphisms by segments in the genome and thus be able to perform the multivariate analysis to found SNPs differences and similarities among populations. (Source: Forensic Science International: Genetics Supplement Series)
Source: Forensic Science International: Genetics Supplement Series - October 3, 2022 Category: Forensic Medicine Authors: GC Iannacone, P Ramirez Source Type: research

Update of aims population data and test with the genogeographer admixture module
Individuals from Slovenia, Greece, Albania, and Eritrea were typed with the Precision ID Ancestry Panel and included among GenoGeographer ’s nine reference populations (Sub-Saharan Africa, Horn of Africa, North Africa, Middle East, Europe, South/Central Asia, East Asia, and East and West Greenland). We tested the performance of GenoGeographer with the Admixture Module on AIM profiles of 3,548 individuals assumed to belong to one of the reference populations. A total of 3,387 (95.5%) profiles were assigned to one or more of the reference populations, either a single population or an admixture of two or more populations, w...
Source: Forensic Science International: Genetics Supplement Series - October 3, 2022 Category: Forensic Medicine Authors: H.S. Mogensen, T. Tvedebrink, V. Pereira, P.S. Eriksen, N. Morling Source Type: research

Trisomy 21 disclosure using STR and SNP markers typed by MiSeq FGx ™ Forensic Genomics System
The presence of a tri-allelic pattern at a single locus in a multiplex short tandem repeat (STR) profile is a rarely observable event. Generally, based on peak height measured by the capillary electrophoresis (CE) method and combination of alleles, the tri-allelic pattern is distinguishable into two predominant types: type 1 and 2, which are caused, respectively, by somatic mutations and chromosomal rearrangements. When tri-allelic patterns at more than one STR located on the same chromosome are detected, there is a reasonable suspicion of a trisomy due to an extra copy of a chromosome. (Source: Forensic Science Internatio...
Source: Forensic Science International: Genetics Supplement Series - September 30, 2022 Category: Forensic Medicine Authors: Stefania Turrina, Giulia Soldati, Dario Raniero, Domenico De Leo Source Type: research

Sample collection strategies when building mitochondrial DNA forensic databases
For establishing databases that capture the existing diversity in populations, the sample collection strategy is a determining factor and caution must be taken when choosing the suitable approach. Many researchers choose to restrict the sampling to individuals with inheritance for three generations in a specific geographic location. However, the appropriate database in a forensic context is the one representing the current population. We analyzed mtDNA composition across generations in populations from Colombia, Ecuador, and Paraguay. (Source: Forensic Science International: Genetics Supplement Series)
Source: Forensic Science International: Genetics Supplement Series - September 30, 2022 Category: Forensic Medicine Authors: Filipa Sim ão, Adriana Castillo, Germán Burgos, Leonor Gusmão Source Type: research

Examination of pretreatment methods for DNA extraction from nails
In this study, we examined whether using the HOrizontal Nail MAshing (HONMA) method, in which pressure is applied to the nail to crush it flat and increase its surface area, would improve DNA extraction efficiency. Fingernails (5mg) provided by ten volunteers were used as samples. Nail pieces (1 –3 pieces), shredded with nail clippers, were thinly stretched by applying 2 t of pressure to each piece using a hydraulic press. (Source: Forensic Science International: Genetics Supplement Series)
Source: Forensic Science International: Genetics Supplement Series - September 30, 2022 Category: Forensic Medicine Authors: Eriko Ochiai, Minoru Asogawa, Wataru Irie, Chizuko Sasaki, Naomi Nakamaru, Momoko Sakamoto, Junpei Nagato, Junichiro Saito, Masatoshi Sugisawa, Fumiko Satoh Source Type: research