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Strategies and Techniques in DNA Forensic Investigations
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Strategies and Techniques in DNA Forensic Investigations

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Molecular Genetics and Genomics".

Deadline for manuscript submissions: 15 August 2024 | Viewed by 2128

Special Issue Editors

Dr. Claus Børsting

E-Mail Website
Guest Editor
Department of Forensic Medicine, Faculty of Health Sciences, University of Copenhagen, 2100 Copenhagen, Denmark
Interests: forensic genetics; SNP analysis; STR analysis; microhaplotype analysis; whole genome sequencing; whole transcriptome sequencing; forensic investigative genetic genealogy
Dr. Vania Alves e Silva Pereira

E-Mail Website
Guest Editor
Department of Forensic Medicine, Faculty of Health Sciences, University of Copenhagen, 2100 Copenhagen, Denmark
Interests: population genetics; forensic genetics; mtDNA analysis; Y chromosome analysis; X-chromosomal diversity; genetic markers; massively parallel sequencing; ancestry; age estimation

Special Issue Information

Dear Colleagues,

High-throuput sequencing quickly changed the landscape of genetic research by introducing vast new possibilities, ranging from single-cell sequencing to microbiome analyses and the whole-genome sequencing of ancient samples. In forensic genetic case work the revolution has evolved slowly, most likely because of the highly optimized and highly sensitive PCR-CE methods already in place in most laboratories. Nevertheless, high-throughput sequencing has had a large impact on forensic genetic research during the last 10–15 years and some of the techniques are gradually being introduced into case work. It has led to new methods, new markers, new applications, and new ways of performing statistical analyses.

The aim of this Special Issue, entitled “Strategies and Techniques in DNA Forensic Investigations", is to highlight the state of the forensic genetic techniques used today and debate their future objectives as well as challenges. Colleagues are encouraged to submit manuscripts of original articles or reviews on forensic genetics.

Dr. Claus Børsting
Dr. Vania Alves e Silva Pereira
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Genes is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • human identification
  • relationship testing
  • forensic investigative genetic genealogy
  • next-generation sequencing/massively parallel sequencing
  • DNA
  • haploid markers
  • RNA
  • DNA methylation
  • non-human forensic genetics

Published Papers (2 papers)

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Research

11 pages, 632 KiB  
Article
Performance of a 74-Microhaplotype Assay in Kinship Analyses
by Carmen Tomas, Pedro Rodrigues, Carina G. Jønck, Zohal Barekzay, Halimureti Simayijiang, Vania Pereira and Claus Børsting
Genes 2024, 15(2), 224; https://doi.org/10.3390/genes15020224 - 10 Feb 2024
Viewed by 993
Abstract
Microhaplotypes (MHs) consisting of multiple SNPs and indels on short stretches of DNA are new and interesting loci for forensic genetic investigations. In this study, we analysed 74 previously defined MHs in two of the populations that our laboratory provides with forensic genetic [...] Read more.
Microhaplotypes (MHs) consisting of multiple SNPs and indels on short stretches of DNA are new and interesting loci for forensic genetic investigations. In this study, we analysed 74 previously defined MHs in two of the populations that our laboratory provides with forensic genetic services, Danes and Greenlanders. In addition to the 229 SNPs that originally made up the 74 MHs, 66 SNPs and 3 indels were identified in the two populations, and 45 of these variants were included in new definitions of the MHs, whereas 24 SNPs were considered rare and of little value for case work. The average effective number of alleles (Ae) was 3.2, 3.0, and 2.6 in Danes, West Greenlanders, and East Greenlanders, respectively. High levels of linkage disequilibrium were observed in East Greenlanders, which reflects the characteristics of this population that has a small size, and signs of admixture and substructure. Pairwise kinship simulations of full siblings, half-siblings, first cousins, and unrelated individuals were performed using allele frequencies from MHs, STRs and SNPs from Danish and Greenlandic populations. The MH panel outperformed the currently used STR and SNP marker sets and was able to differentiate siblings from unrelated individuals with a 0% false positive rate and a 1.1% false negative rate using an LR threshold of 10,000 in the Danish population. However, the panel was not able to differentiate half-siblings or first cousins from unrelated individuals. The results generated in this study will be used to implement MHs as investigative markers for relationship testing in our laboratory. Full article
(This article belongs to the Special Issue Strategies and Techniques in DNA Forensic Investigations)
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17 pages, 3710 KiB  
Article
Optimizing Analytical Thresholds for Low-Template DNA Analysis: Insights from Multi-Laboratory Negative Controls
by Dezhi Chen, Mengyu Tan, Jiaming Xue, Mengna Wu, Jinlong Song, Qiushuo Wu, Guihong Liu, Yazi Zheng, Yuanyuan Xiao, Meili Lv, Miao Liao, Shengqiu Qu and Weibo Liang
Genes 2024, 15(1), 117; https://doi.org/10.3390/genes15010117 - 18 Jan 2024
Viewed by 806
Abstract
When analyzing challenging samples, such as low-template DNA, analysts aim to maximize information while minimizing noise, often by adjusting the analytical threshold (AT) for optimal results. A potential approach involves calculating the AT based on the baseline signal distribution in electrophoresis results. This [...] Read more.
When analyzing challenging samples, such as low-template DNA, analysts aim to maximize information while minimizing noise, often by adjusting the analytical threshold (AT) for optimal results. A potential approach involves calculating the AT based on the baseline signal distribution in electrophoresis results. This study investigates the impact of reagent kits, testing quarters, environmental conditions, and amplification cycles on baseline signals using historical records and experimental data on low-template DNA. Variations in these aspects contribute to differences in baseline signal patterns. Analysts should remain vigilant regarding routine instrument maintenance and reagent replacement, as these may affect baseline signals. Prompt analysis of baseline status and tailored adjustments to ATs under specific laboratory conditions are advised. A comparative analysis of published methods for calculating the optimal AT from a negative signal distribution highlighted the efficiency of utilizing baseline signals to enhance forensic genetic analysis, with the exception of extremely low-template samples and high-amplification cycles. Moreover, a user-friendly program for real-time analysis was developed, enabling prompt adjustments to ATs based on negative control profiles. In conclusion, this study provides insights into baseline signals, aiming to enhance genetic analysis accuracy across diverse laboratories. Practical recommendations are offered for optimizing ATs in forensic DNA analysis. Full article
(This article belongs to the Special Issue Strategies and Techniques in DNA Forensic Investigations)
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