Article
Medicine, Legal
Suhair M. Jabbar, Nihad A. M. Al-Rashedi
Summary: Although Iraq has a rich cultural history and unique geographic location, there is a lack of forensic reference data on mitochondrial DNA (mtDNA) control region in Iraqi populations, especially in the southern part of the country. This study conducted forensic analysis on 203 unrelated individuals in Samawah City, revealing 111 haplotypes with 143 polymorphic positions in the mtDNA control region. The data generated will be available for further research and forensic investigations.
INTERNATIONAL JOURNAL OF LEGAL MEDICINE
(2021)
Article
Genetics & Heredity
Martin Bodner, Ugo A. Perego, J. Edgar Gomez, Ricardo M. Cerda-Flores, Nicola Rambaldi Migliore, Scott R. Woodward, Walther Parson, Alessandro Achilli
Summary: Mexico is a rich source for anthropological and population genetic studies, with a high diversity of ethnic and linguistic groups. Despite most Mexicans identifying as mixed rather than Indigenous, maternal inherited mitochondrial DNA reveals an overwhelming Indigenous American legacy in the modern Mexican population. This suggests a low European contribution to the Mexican gene pool by female colonizers.
Article
Medicine, Legal
Charity A. Holland, Jennifer A. McElhoe, Sidney Gaston-Sanchez, Mitchell M. Holland
Summary: Massively parallel sequencing of mitochondrial DNA can help practitioners fully resolve heteroplasmic sites, especially in forensic DNA analysis. Damage and heteroplasmy can manifest similarly in DNA mixtures, highlighting the importance of differentiating between the two conditions. Controlled experiments involving DNA damage were conducted to evaluate the impact on samples with different template concentrations, aiming to improve mtDNA analysis for low template samples. Damage caused a decrease in mtDNA yield and lower quality sequencing results, especially in samples diluted prior to damage induction, indicating the susceptibility of low template samples to damage. This study's findings will aid forensic laboratories in distinguishing between damage and heteroplasmy, crucial for setting robust mtDNA interpretation guidelines.
INTERNATIONAL JOURNAL OF LEGAL MEDICINE
(2021)
Article
Genetics & Heredity
Nuket Bilgen, Mervenur Guvendi, Efe Sezgin, Huseyin Can, Ahmet Efe Koseoglu, Sedef Erkunt Alak, Mert Doskaya, Cemal Un
Summary: This study investigated the mitochondrial DNA diversity in random bred cats from various regions across Turkey and compared it with the mitochondrial DNA profiles of Turkish Angora and Turkish Van breeds. The analysis identified nine 'universal' mitochondrial DNA profiles and one 'outlier' profile in random bred cats. The haplotype structure in random bred cats showed remarkable diversity compared to Turkish Angora and Van breeds. Overall, this study expands our understanding of the feline genetic landscape in Turkey and lays the foundation for future research on the evolutionary trajectories and genetic legacies of these feline populations.
Article
Genetics & Heredity
Cydne L. Holt, Kathryn M. Stephens, Paulina Walichiewicz, Keenan D. Fleming, Elmira Forouzmand, Shan-Fu Wu
Summary: This study utilized next-generation sequencing for forensic mitochondrial DNA analysis and validated the robust performance of two multiplexes on various samples, meeting or exceeding forensic DNA quality assurance guidelines.
Article
Genetics & Heredity
Lirong Jiang, Jing Liu, Suyu Li, Yufeng Wen, Xinyue Zheng, Liu Qin, Yiping Hou, Zheng Wang
Summary: This study evaluated the performance of four commonly used variant callers in the heterogeneity authentication of human mtDNA and developed a python-based nanopore analytics pipeline, CmVCall. The results showed that CmVCall can accurately identify heterogeneity and reveal significant levels of individual differences. This analysis pipeline lays a solid foundation for comprehensive research on the characteristics of the mitochondrial genome.
FORENSIC SCIENCE INTERNATIONAL-GENETICS
(2023)
Article
Genetics & Heredity
Lauren. C. C. Canale, Jennifer. A. A. McElhoe, Gloria Dimick, Katherine. M. M. DeHeer, Jason Beckert, Mitchell. M. M. Holland
Summary: This study investigates the impact of hair age and physical characteristics on mtDNA recovery and MPS data quality. The results show that reliable mitogenome sequences can be generated from 1 and 5 mm hair shaft samples up to 27 years of age using MPS.
Article
Medicine, Legal
Jennifer A. McElhoe, Peter R. Wilton, Walther Parson, Mitchell M. Holland
Summary: This study analyzed 1301 control region sequences to assess the frequency of point heteroplasmy in different populations. The majority of heteroplasmic individuals had only one heteroplasmic site and the observed heteroplasmies were relatively low in frequency across nucleotide positions. The posterior frequency estimates provided a conservative statistical framework for evaluating haplotype/heteroplasmy matches in forensic cases.
INTERNATIONAL JOURNAL OF LEGAL MEDICINE
(2022)
Article
Biochemistry & Molecular Biology
Martin Bodner, Christina Amory, Anna Olivieri, Francesca Gandini, Irene Cardinali, Hovirag Lancioni, Gabriela Huber, Catarina Xavier, Maria Pala, Alessandro Fichera, Lisa Schnaller, Mario Gysi, Stefania Sarno, Davide Pettener, Donata Luiselli, Martin B. Richards, Ornella Semino, Alessandro Achilli, Antonio Torroni, Walther Parson
Summary: This study investigates the potential to solve the limitations in forensic applications caused by the high number of matching haplotypes of the most common mitochondrial (mt)DNA lineages. By massively parallel sequencing a large number of mitogenomes, the study found that complete mitogenome sequencing significantly improved discrimination power and did not reveal any phylogeographic trends within Italy.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Environmental Sciences
Chris Douvris, Edward Bentil, Isaac Ayensu, Clement Osei Akoto, Isaac Kingsley Amponsah, Joseph Adu, Derek Bussan
Summary: Cannabis has been a widely cultivated plant for centuries for its various uses, including as a psychoactive drug and for medicinal purposes. Despite the prohibition of cannabis products in many African countries, the continent is actually the largest producer of cannabis globally. Law enforcement authorities in Africa are highly interested in using chemical analyses to trace the origin of seized cannabis samples. In a study focused on Ghana, inductively coupled plasma mass spectrometry (ICP-MS) was used to determine 12 elements in cannabis seized by authorities and soils of cannabis farms. Multivariate analysis was then applied to distinguish different cannabis farms and match them with the samples, revealing high concentrations of elements like As and Pb in the cannabis samples.
Article
Genetics & Heredity
C. Xavier, M. de la Puente, A. Mosquera-Miguel, A. Freire-Aradas, V. Kalamara, A. Ralf, A. Revoir, T. E. Gross, P. M. Schneider, C. Ames, C. Hohoff, C. Phillips, M. Kayser, W. Parson
Summary: The VISAGE Consortium was founded in 2017 to develop new molecular and statistical tools for predicting appearance, ancestry, and age from DNA. The VISAGE Enhanced Tool for Appearance and Ancestry, the first forensic-driven genetic laboratory tool, includes markers for eye, hair, and skin color, as well as more recently discovered markers for other traits. Five VISAGE laboratories tested and evaluated the tool, and it was found to be robust, reproducible, and sensitive.
FORENSIC SCIENCE INTERNATIONAL-GENETICS
(2022)
Article
Multidisciplinary Sciences
Nuttachai Kulthammanit, Tikumphorn Sathirapatya, Poonyapat Sukawutthiya, Hasnee Noh, Kornkiat Vongpaisarnsin, Duangdao Wichadakul
Summary: Short tandem repeats (STRs) are commonly found in the human genome and used for forensic science. However, there is currently no open-source software platform that integrates the collection, management, and analysis of STR data from next-generation sequencing (NGS). To address this gap, we introduce STRategy, a web-based application that provides essential STR data management and analysis capabilities.
Review
Genetics & Heredity
Charla Marshall, Walther Parson
Summary: The article summarizes the discovery of Nuclear mitochondrial DNA segments (NUMTs) and their interpretation history, emphasizing the confirmation of their abundance and youthfulness by modern sequencing technologies and growing databases. It also proposes corresponding bioinformatic processing methods.
FORENSIC SCIENCE INTERNATIONAL-GENETICS
(2021)
Article
Microbiology
Kochi Toyomane, Ryo Yokota, Ken Watanabe, Tomoko Akutsu, Ai Asahi, Satoshi Kubota
Summary: This study found that CRISPR spacer sequences in the human skin microbiome are highly personalized and may be used for personal identification, but their forensic relevance is still unclear.
Article
Genetics & Heredity
Jacqueline Tyler Thomas, Courtney Cavagnino, Katelyn Kjelland, Elise Anderson, Kimberly Sturk-Andreaggi, Jennifer Daniels-Higginbotham, Christina Amory, Brian Spatola, Kimberlee Moran, Walther Parson, Charla Marshall
Summary: This study demonstrates that DNA quantification using qPCR can successfully predict the success of DNA profiling in historical bone samples. The results show a positive correlation between qPCR results and the success of SNP, mtDNA, and STR analysis. The study also suggests that human DNA quantity is a better predictor of success than the ratio of human to exogenous DNA.
Article
Oncology
Heidelinde Fiegl, Judith Hagenbuchner, Christiana Kyvelidou, Beata Seeber, Sieghart Sopper, Irina Tsibulak, Verena Wieser, Elisabeth Reiser, Julia Roessler, Kaisa Huhtinen, Olli Carpen, Walther Parson, Susanne Sprung, Christian Marth, Michael J. Ausserlechner, Alain G. Zeimet
Summary: This study found that certain ovarian cancer samples express OPRM1, but it is not a prerequisite for the function of D, L-methadone. Therefore, D, L-methadone may exert detrimental effects by stimulating the growth of certain ovarian cancer cells and attenuating the therapeutic effect of cisplatin.
GYNECOLOGIC ONCOLOGY
(2022)
Article
Genetics & Heredity
Irene Cardinali, Martin Bodner, Marco Rosario Capodiferro, Christina Amory, Nicola Rambaldi Migliore, Edgar J. Gomez, Erdene Myagmar, Tumen Dashzeveg, Francesco Carano, Scott R. Woodward, Walther Parson, Ugo A. Perego, Hovirag Lancioni, Alessandro Achilli
Summary: This study provides a detailed analysis of mitochondrial DNA variation in modern Mongolians, revealing their genetic makeup influenced by both Eastern and Western Eurasia. Continuous genetic connections with neighboring Asian populations until recent times were observed, with geographically restricted haplotype-sharing, possibly facilitated by Genghis Khan's Pax Mongolica. Additionally, a genetic connection with Western Eurasian refuges in the late Pleistocene and early Holocene was detected. The research also highlights the link between modern Mongolian mitochondrial lineages and the Silk Route.
FRONTIERS IN GENETICS
(2022)
Article
Genetics & Heredity
Catarina Xavier, Maria de la Puente, Maja Sidstedt, Klara Junker, Angelika Minawi, Martina Unterlaender, Yann Chantrel, Francois-Xavier Laurent, Anna Delest, Carsten Hohoff, Ingo Bastisch, Johannes Hedman, Kristiaan J. van der Gaag, Titia Sijen, Walther Parson
Summary: The VISAGE Consortium has developed a reliable and robust DNA phenotyping tool for appearance, age, and ancestry prediction, using new molecular and statistical tools to enhance the accuracy and detail of predictions.
FORENSIC SCIENCE INTERNATIONAL-GENETICS
(2022)
Article
Genetics & Heredity
Ji Eun Lee, Jeong Min Lee, Jana Naue, Jan Fleckhaus, Ana Freire-Aradas, Jacqueline Neubauer, Ewelina Pospiech, Bruce McCord, Vivian Kalamara, Quentin Gauthier, Carly Mills, Yijian Cao, Zheng Wang, Yu Na Oh, Lei Feng, Peter M. Schneider, Christopher Phillips, Cordula Haas, Aleksandra Pisarek, Wojciech Branicki, Daniele Podini, Athina Vidaki, Nicole Fernandez Tejero, Adrian Ambroa-Conde, Ana Mosquera-Miguel, Maria Victoria Lareu, Yiping Hou, Joo Young Lee, Hwan Young Lee
Summary: DNA methylation has become an important biomarker for age prediction and body fluid identification in forensic science. SNaPshot-based assays, with their multiplex analysis capability and compatibility with existing instrumentation, show great potential for forensic laboratories. However, technical validation is necessary for successful integration into routine workflows.
FORENSIC SCIENCE INTERNATIONAL-GENETICS
(2022)
Article
Respiratory System
T. Trojan, Miguel A. Alejandre Alcazar, G. Fink, J. C. Thomassen, M. Maessenhausen, E. Rietschel, P. M. Schneider, S. Van Koningsbruggen-Rietschel
Summary: This study assessed the relationship between genetic TGF-beta(1) polymorphisms and pulmonary disease progression in cystic fibrosis (CF) patients. The results suggest that these polymorphisms have an effect on lung function decline, Pseudomonas aeruginosa infection, and levels of inflammatory cytokines.
BMC PULMONARY MEDICINE
(2022)
Article
Oncology
Liliane Borik-Heil, Georg Endler, Walther Parson, Andreas Zuckermann, Lisa Schnaller, Keziban Uyanik-Uenal, Peter Jaksch, Georg Boehmig, Daniel Cejka, Katharina Staufer, Elisabeth Hielle-Wittmann, Susanne Rasoul-Rockenschaub, Peter Wolf, Raute Sunder-Plassmann, Alexandra Geusau
Summary: Due to life-long immunosuppression, organ transplant recipients are prone to skin cancer development. Cumulative UV burden, actinic keratosis, and certain MC1R genotypes increase the risk of skin cancer. Skin aging is only connected with a higher number of tumors, not with the development of skin cancer per se.
Article
Biology
Seraphin H. Unterberger, Cordula Berger, Michael Schirmer, Anton Kasper Pallua, Bettina Zelger, Georg Schaefer, Christian Kremser, Gerald Degenhart, Harald Spiegl, Simon Erler, David Putzer, Rohit Arora, Walther Parson, Johannes Dominikus Pallua
Summary: As glaciers melt, animal mummies preserved in ice for centuries are released, and the biological information in the residual soft tissues may vary depending on the preservation method. Paleoradiology, using micro-CT and MRI, is a non-destructive method for analyzing mummies. In this study, a 350-year-old Austrian Ardea purpurea glacier mummy was identified using micro-CT, MRI, histo-anatomical analyses, and DNA sequencing.
Article
Biochemistry & Molecular Biology
Marco Rosario Capodiferro, Ana Maria Chero Osorio, Nicola Rambaldi Migliore, Dean Herman Tineo Tineo, Alessandro Raveane, Catarina Xavier, Martin Bodner, Filipa Simao, Linda Ongaro, Francesco Montinaro, John Lindo, Emilia Huerta-Sanchez, Gustavo Politis, Chiara Barbieri, Walther Parson, Leonor Gusmao, Alessandro Achilli
Summary: Despite being a crucial area, the genomic and archaeogenomic study of the western side of Amazonia between the Andes and the source of the Amazon River is lacking. This study focuses on this region and analyzes the genome-wide profiles of Ashaninka individuals from Amazonian Peru. The study reveals unexpected genomic variation and identifies distinct Ashaninka subgroups shaped by external admixtures, particularly with Indigenous groups from the Andes and the Pacific coast. The research also uncovers connections between present-day Ashaninka and Indigenous groups in the Caribbean, contributing to early Ceramic traditions in the islands.
Article
Genetics & Heredity
J. Ruiz-Ramirez, M. de la Puente, C. Xavier, A. Ambroa-Conde, J. Alvarez-Dios, A. Freire-Aradas, A. Mosquera-Miguel, A. Ralf, C. Amory, M. A. Katsara, T. Khellaf, M. Nothnagel, E. Y. Y. Cheung, T. E. Gross, P. M. Schneider, J. Uacyisrael, S. Oliveira, M. d. N. Klautau-Guimara, C. Carvalho-Gontijo, E. Pospiech, W. Branicki, W. Parson, M. Kayser, A. Carracedo, M. V. Lareu, C. Phillips
Summary: The VISAGE Enhanced Tool (ET) combines genetic markers and visible characteristics to predict ancestry and appearance. The tool uses a high-throughput sequencing assay and includes markers for differentiating Middle Eastern populations. ET can effectively differentiate different populations and their admixed backgrounds, and can be used for analyzing mixed DNA samples.
FORENSIC SCIENCE INTERNATIONAL-GENETICS
(2023)
Article
Genetics & Heredity
Jacqueline Tyler Thomas, Courtney Cavagnino, Katelyn Kjelland, Elise Anderson, Kimberly Sturk-Andreaggi, Jennifer Daniels-Higginbotham, Christina Amory, Brian Spatola, Kimberlee Moran, Walther Parson, Charla Marshall
Summary: This study demonstrates that DNA quantification using qPCR can successfully predict the success of DNA profiling in historical bone samples. The results show a positive correlation between qPCR results and the success of SNP, mtDNA, and STR analysis. The study also suggests that human DNA quantity is a better predictor of success than the ratio of human to exogenous DNA.
Article
Archaeology
Konstantina Saliari, Christina Amory, Erich Draganits, Peter C. Ramsl, Bendeguz Tobias, Erich Pucher, Walther Parson
Summary: Osteometric data and morphological observations from Roman period cattle bones in present-day Austria indicate the arrival of a new large-sized cattle population associated with Roman conquest and Mediterranean importation. Recent documentation of similar large-sized cattle remains from Late Iron Age sites suggests the earlier presence of this cattle population alongside the typical Iron Age cattle population. Ancient mitochondrial DNA analysis reveals the presence of haplogroups T1 and T5, previously only found in Mediterranean cattle populations, in the Iron Age large-sized cattle from present-day Austria, providing evidence for cattle imports from the Mediterranean during this period.
JOURNAL OF ARCHAEOLOGICAL SCIENCE-REPORTS
(2023)
Article
Genetics & Heredity
Josephin Heinrich, Cordula Berger, Burkhard Berger, Werner Hecht, Christopher Phillips, Walther Parson
Summary: Predicting the outward appearance of dogs via their DNA is a new field of research in forensic genetics. The study developed a genetic assay, the LASSIE MPS Panel, which uses 44 genetic markers to predict various traits of dogs. The predictive performance of this assay was evaluated and found to be successful in predicting the appearance of randomly selected dog individuals.
FORENSIC SCIENCE INTERNATIONAL-GENETICS
(2023)
Article
Genetics & Heredity
Kimberly Sturk-Andreaggi, Martin Bodner, Joseph D. Ring, Adam Ameur, Ulf Gyllensten, Walther Parson, Charla Marshall, Marie Allen
Summary: The study analyzed the mitochondrial DNA (mtDNA) reads from the SweGen whole genome sequencing dataset to characterize mitogenome variation in Sweden. A total of 934 forensic-quality mitogenome haplotypes were identified, with almost 45% belonging to haplogroup H. The majority (99.1%) of the mitogenome haplotypes were assigned to European haplogroups, as expected. The study also observed signature haplogroups from northern Sweden and Finland, consistent with previous nuclear DNA analyses. The complete mitogenome analysis showed high haplotype diversity and a low random match probability.
Article
Genetics & Heredity
Catarina Xavier, Charlotte Sutter, Christina Amory, Harald Niederstaetter, Walther Parson
Summary: The accurate quantification of DNA in forensic samples is essential, and it is recommended to use the appropriate analysis route with optimum DNA amount. DNA quantification provides information about degradation stage and aids in choosing suitable genotyping methods. The new qPCR method, NuMY, allows parallel quantification of human nuclear and mitochondrial DNA, assessing the male portion in mixtures and testing for PCR inhibition. It is a reliable tool for challenging forensic samples.
Article
Genetics & Heredity
Amy H. J. Chan, Michael G. Gardner, Adrian Linacre
Summary: We report the detection and visualisation of latent DNA from pangolin scales using a nucleic acid staining dye, and propose that this method is invaluable in wildlife forensic science.
FORENSIC SCIENCE INTERNATIONAL-GENETICS
(2024)
Article
Genetics & Heredity
Fernanda M. Garcia, Raquel S. R. Trabach, Victor S. Stange, Bruno Cancian, Alexia S. S. Zetum, Matheus C. Casotti, Flavia I. V. Errera, Elizeu F. de Carvalho, Debora D. Meira, Iuri D. Louro
Summary: This study found that the population of Espirito Santo, Brazil is genetically closer to the Italian population based on the analysis of STR markers on the X chromosome.
FORENSIC SCIENCE INTERNATIONAL-GENETICS
(2024)
Article
Genetics & Heredity
Zhiyong Liu, Jiajun Liu, Jiaojiao Geng, Enlin Wu, Jianzhang Zhu, Bin Cong, Riga Wu, Hongyu Sun
Summary: Microorganisms can serve as potential markers for identifying body fluids and tissues in forensic genetics. This study explored the use of metatranscriptomics to characterize common forensic samples and investigated the potential application of metatranscriptomics in forensic science. The results demonstrated high alpha diversity in saliva and skin samples, and the use of machine learning models showed that microbial RNA-based methods could be applied for forensic body fluid/tissue identification. Overall, this study provides insights into the role of metatranscriptomics in forensic science and its potential for microbe-based individual identification.
FORENSIC SCIENCE INTERNATIONAL-GENETICS
(2024)
Article
Genetics & Heredity
Guro Dorum, Nadescha Viviane Haenggi, Dario Burri, Yael Marti, Regine Banemann, Galina Kulstein, Cornelius Courts, Annica Gosch, Thorsten Hadrys, Cordula Haas, Jacqueline Neubauer
Summary: RNA has gained attention in forensic field for predicting biological age. This study used RNA-Seq data to search for markers associated with age and presented two candidate marker lists.
FORENSIC SCIENCE INTERNATIONAL-GENETICS
(2024)
Article
Genetics & Heredity
Michele Di Nunzio, Carme Barrot-Feixat, David Gangitano
Summary: This study developed five SNaPshotTM assays for nine chloroplast markers to differentiate between marijuana crop type and hemp crop type. The testing of 122 cannabis samples successfully distinguished between marijuana and hemp, and genetic differences between different groups based on biogeographical origin and crop type were observed. Phylogenetic analysis and principal component analysis provided valuable information about the genetic relationship and differentiation between different cannabis samples.
FORENSIC SCIENCE INTERNATIONAL-GENETICS
(2024)
Article
Genetics & Heredity
Katherine B. Gettings, Martin Bodner, Lisa A. Borsuk, Jonathan L. King, David Ballard, Walther Parson, Corina C. G. Benschop, Claus Borsting, Bruce Budowle, John M. Butler, Kristiaan J. van der Gaag, Peter Gill, Leonor Gusmao, Douglas R. Hares, Jerry Hoogenboom, Jodi Irwin, Lourdes Prieto, Peter M. Schneider, Marielle Vennemann, Christopher Phillips
Summary: The DNA Commission of the ISFG has developed nomenclature recommendations for STR sequences, incorporating research findings and providing guidance for interlaboratory comparisons and the integration of new markers into investigative databases.
FORENSIC SCIENCE INTERNATIONAL-GENETICS
(2024)