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Novel Strategies in Forensic Genetics
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Novel Strategies in Forensic Genetics

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

Deadline for manuscript submissions: 20 May 2026 | Viewed by 1241

Special Issue Editor

Prof. Dr. Marie Allen

E-Mail Website
Guest Editor
Department of Immunology, Genetics and Pathology, Uppsala University, 751 08 Uppsala, Sweden
Interests: forensic genetics; forensic DNA analysis; NGS; mitochondrial DNA
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

This Special Issue will focus on novel strategies in forensic genetics, exploring advancements beyond traditional DNA profiling to address complex investigative challenges. It will include emerging techniques like forensic genetic genealogy, next-generation sequencing, and advanced bioinformatic tools, which are revolutionizing crime scene analysis, cold case investigations, and the identification of human remains. This issue will cover the application of these new strategies, along with the ethical and technical considerations surrounding them. Forensic science has been enhanced by recent technological breakthroughs, including massively parallel sequencing (MPS), portable DNA platforms, and novel genetic markers, which have expanded the capabilities for analyzing complex, degraded, or trace DNA samples. The collected works highlight how these innovations, from on-scene DNA analysis, sample collection, DNA extraction, and novel markers to advanced bioinformatics, are improving speed, sensitivity, and the overall scope of forensic investigations.

Prof. Dr. Marie Allen
Guest Editor

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 250 words) can be sent to the Editorial Office for assessment.

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

  • foresic DNA analysis
  • sample collection
  • DNA extraction
  • novel DNA markers
  • MPS
  • bioinformatics

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Published Papers (2 papers)

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Research

13 pages, 1064 KB  
Article
DNA Recovery Using Different Extraction Kits and Cotton Swabs in Forensic DNA Analysis
by Ghassan Ali Salih, Martina Nilsson and Marie Allen
Genes 2026, 17(4), 457; https://doi.org/10.3390/genes17040457 - 14 Apr 2026
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Abstract
Background: It is essential to recover as much DNA as possible from evidence samples to ensure optimal DNA analysis in forensic casework. However, both DNA collection and purification procedures cause a substantial loss of genetic material. Thus, a large loss of DNA through [...] Read more.
Background: It is essential to recover as much DNA as possible from evidence samples to ensure optimal DNA analysis in forensic casework. However, both DNA collection and purification procedures cause a substantial loss of genetic material. Thus, a large loss of DNA through the pre-PCR procedures, including swabbing and extraction, may significantly affect downstream analysis results. In this study, different cotton swabs and extraction kits used for forensic samples were compared separately. Methods: The recovery of cell-free DNA (control DNA) and cell-bound DNA (blood and saliva) was evaluated using five different extraction kits: Chelex® 100 Resin, Wizard® Genomic DNA Purification Kit, QIAamp® DNA Micro Kit, QIAamp® DNA Investigator Kit and DNeasy® Blood & Tissue Kit. The DNA recovery efficiency of the different extraction kits was assessed using real-time quantitative PCR targeting nuclear and mitochondrial DNA targets. In addition, nine cotton swabs from four manufacturers (Selefa®, Puritan®, Texwipe®, and Heinz Herenz) with different production lots were evaluated for DNA quantity and quality using real-time PCR and short tandem repeat (STR) analysis. Results: Overall, large differences in DNA recovery were observed between the different extraction kits. The QIAInvestigator kit demonstrated the highest recovery at low DNA amounts, which is particularly beneficial for minute forensic samples. The swab comparison revealed variations not only in DNA recovery between swab manufacturers but also between lots of the same swab brand, and the DNA quantity was not clearly correlated with downstream DNA profile quality. Conclusions: Our findings emphasise the importance of considering the choice of extraction kit, swab brand and batch-to-batch variation in forensic laboratory procedures, as they may influence DNA recoveries and affect the success rate in forensic casework. Full article
(This article belongs to the Special Issue Novel Strategies in Forensic Genetics)
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21 pages, 2529 KB  
Article
The Epigenetic Fingerprint of Lifestyle: Smoking, Vaping, and Exercise Revealed Through Buccal DNA Methylation
by María Josefina Castagnola, Mayaas Hassan, Varun B. Dwaraka, Ryan Smith and Sara C. Zapico
Genes 2026, 17(4), 369; https://doi.org/10.3390/genes17040369 - 25 Mar 2026
Viewed by 618
Abstract
Background/Objectives: Lifestyle behaviors such as smoking, vaping, and physical activity can induce epigenetic modifications that influence health trajectories and may provide forensic value. DNA methylation signatures linked to these behaviors offer potential for behavioral inference, personalized health assessment, and improved investigative practices. This [...] Read more.
Background/Objectives: Lifestyle behaviors such as smoking, vaping, and physical activity can induce epigenetic modifications that influence health trajectories and may provide forensic value. DNA methylation signatures linked to these behaviors offer potential for behavioral inference, personalized health assessment, and improved investigative practices. This study aimed to characterize methylation patterns associated with nicotine exposure and exercise using buccal cell DNA profiling, and to evaluate the extent to which these patterns differentiate harmful and protective lifestyle habits. Methods: Buccal epithelial DNA was analyzed using the Illumina Infinium MethylationEPIC v2 BeadChip to assess genome-wide methylation. Participants were categorized by smoking status, vaping behavior, and exercise activity. Differentially methylated regions (DMRs) and CpG sites were identified through pairwise comparisons among smokers, vapers, non-smokers/non-vapers, athletes, and sedentary individuals. A threshold of p < 1 × 10−4 was applied for significant differentially methylated CpG sites. Results: Distinct epigenetic profiles were associated with smoking/vaping and physical activity. Five DMRs differentiated smokers from non-smokers/non vapers, while 11 DMRs distinguished vapers from the same reference group. Twenty-eight DMRs displayed divergent methylation patterns between smokers and vapers. Exercise also showed measurable epigenetic influence: control athletes exhibited 26 significantly differentially methylated CpG sites relative to non-athletes, and smoker athletes demonstrated 126 suggestive differential sites compared to sedentary smokers. Additionally, 63 sites differentiated smoker athletes from non-smoker/non-vaper non-athletes, indicating interactions between risk-associated and health-promoting behaviors. Conclusions: Buccal cell DNA methylation profiling effectively captured signatures associated with smoking, vaping, and physical activity. These findings underscore the potential of epigenetic markers for lifestyle assessment in both personalized medicine and forensic investigations. Full article
(This article belongs to the Special Issue Novel Strategies in Forensic Genetics)
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