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Research Updates in Forensic Genetics
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Research Updates in Forensic Genetics

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

Deadline for manuscript submissions: 15 June 2026 | Viewed by 4333

Special Issue Editor

Prof. Dr. Massimo Lancia

E-Mail Website
Guest Editor
Section of Legal Medicine, Department of Medicine and Surgery, University of Perugia, Perugia, Italy
Interests: legal medicine; medical ethics; sudden cardiac death; forensic toxicology; forensic genetics; disaster victim identification; time since death

Special Issue Information

Dear Colleagues,

The continuous evolution of forensic molecular biology, driven by technological innovations, active research efforts, and expanded applications, is crucial to delivering reliable, accurate, and timely results for the justice system. Advanced DNA typing techniques, such as Next Generation Sequencing and Single-Cell Analysis, enable a more efficient and informative analysis of scarce, degraded and complex samples, while rapid sequencing emerged to facilitate on-site sample processing. These technological breakthroughs extend beyond personal identification via STR profile comparison. They are now integral for diverse applications, including familial searches, mass disaster victim identification, DNA phenotyping, biological age estimation, and biogeographic ancestry prediction. Furthermore, the field has shifted toward the contextualization of DNA evidence, fostering active research in areas such as environmental DNA, microbial forensics, time since deposition, post-mortem interval estimation, wound dating, and studies on trace DNA transfer, persistence, prevalence, and recovery.

This Special Issue aims to present cutting-edge, original research and applications thereof in routine casework, for both human and non-human samples. It will also highlight the biostatistical tools that underpin these applications and address the pressing social and ethical considerations accompanying these scientific innovations.

Prof. Dr. Massimo Lancia
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

  • next generation sequencing
  • single cell analysis
  • time since deposition
  • time since death
  • DNA phenotyping
  • biogeographic ancestry
  • age prediction
  • familial search
  • disaster victim identification
  • trace DNA contextualisation

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Further information on MDPI's Special Issue policies can be found here.

Published Papers (3 papers)

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Review

15 pages, 634 KB  
Review
Advances in Nondestructive DNA Extraction from Teeth for Human Identification
by Irena Zupanič Pajnič
Genes 2026, 17(1), 113; https://doi.org/10.3390/genes17010113 - 20 Jan 2026
Viewed by 848
Abstract
This review synthesizes advances in nondestructive DNA extraction from teeth, emphasizing their importance in forensics and archaeogenetics. Because of their mineralized structure and resistance to diagenesis, teeth remain vital for human identification when other tissues are unavailable or degraded. Modern protocols targeting dental [...] Read more.
This review synthesizes advances in nondestructive DNA extraction from teeth, emphasizing their importance in forensics and archaeogenetics. Because of their mineralized structure and resistance to diagenesis, teeth remain vital for human identification when other tissues are unavailable or degraded. Modern protocols targeting dental cementum have shown high success rates in retrieving nuclear DNA while maintaining specimen integrity, supporting ethical standards, and enabling additional morphological and isotopic analyses. Nondestructive extraction methods produce DNA yields comparable to—or in some archaeological cases, greater than—those of traditional destructive approaches, while ensuring strict contamination control and minimal physical impact. Cementum is a reliable source of DNA in aged and degraded teeth, although the petrous part of the temporal bone still represents the best option under extreme preservation conditions. These results highlight the need for context-specific sampling strategies that balance analytical goals with the preservation of museum collections. Future efforts include testing nondestructive protocols across various forensic scenarios and creating predictive models for DNA preservation. Overall, these developments promote ethical, effective, and sustainable practices in human genomic analysis. Full article
(This article belongs to the Special Issue Research Updates in Forensic Genetics)
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25 pages, 1817 KB  
Review
Animal Species and Identity Testing: Developments, Challenges, and Applications to Non-Human Forensics
by Bruce Budowle, Antti Sajantila and Daniel Vanek
Genes 2025, 16(12), 1503; https://doi.org/10.3390/genes16121503 - 16 Dec 2025
Cited by 1 | Viewed by 2148
Abstract
Biological samples of non-human origin, commonly encountered in wildlife crime investigations, present distinct challenges regarding forensic DNA analysis efforts. Although the types of samples encountered in human identity testing can vary to some degree, analyzing DNA from one species is facilitated by unified [...] Read more.
Biological samples of non-human origin, commonly encountered in wildlife crime investigations, present distinct challenges regarding forensic DNA analysis efforts. Although the types of samples encountered in human identity testing can vary to some degree, analyzing DNA from one species is facilitated by unified processes, common genetic marker systems, and national DNA databases. In contrast, non-human animal species identification is confounded by a diverse range of target species and a variety of sampling materials, such as feathers, processed animal parts in traditional medicine, and taxidermy specimens, which often contain degraded DNA in low quantities, are contaminated with chemical inhibitors, and may be comingled with other species. These complexities require specialized analytical approaches. Compounding these issues is a lack of validated non-human species forensic sampling and typing kits, and the risk of human DNA contamination during evidence collection. Markers residing on the mitochondrial genome (mtDNA) are routinely sought because of the large datasets available for comparison and their greater sensitivity of detection. However, the barcoding results can be complicated at times for achieving species-level resolution, the presence of nuclear inserts of mitochondrial DNA (NUMTs), and the limitation of mtDNA analysis alone to detect hybrids. Species-specific genetic markers for identification have been developed for a few high-profile species; however, many CITES (Convention on International Trade in Endangered Species of Wild Fauna and Flora)-listed organisms lack specific, validated forensic analytical tools, creating a significant gap in investigative enforcement capabilities. This deficiency stems in part from the low commercial nature of wildlife forensics efforts, a government research-driven field, the difficulty of obtaining sufficient reference samples from wild populations, limited training and education infrastructure, and inadequate funding support. Full article
(This article belongs to the Special Issue Research Updates in Forensic Genetics)
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12 pages, 638 KB  
Review
The Role of Molecular Autopsy in Concealed Cardiomyopathies
by Oscar Campuzano, Coloma Tirón, Estefanía Martínez-Barrios, Andrea Greco, Jose Cruzalegui, Fredy Chipa, Sergi Cesar, Erika Fernanda Merchan, Mónica Coll, Anna Fernández-Falgueras, Ramon Brugada, Marisa Ortega, Núria Molina, Eneko Barberia, Rocío Toro, Antonio Oliva, Simone Grassi and Georgia Sarquella-Brugada
Genes 2025, 16(11), 1273; https://doi.org/10.3390/genes16111273 - 28 Oct 2025
Viewed by 874
Abstract
A conclusive and early diagnosis of cardiomyopathy is essential for implementing preventive therapeutic measures and, therefore, reducing the risk of malignant arrhythmias and even sudden cardiac death. Occasionally, this lethal event can be the first manifestation of cardiomyopathy, with or without a clear [...] Read more.
A conclusive and early diagnosis of cardiomyopathy is essential for implementing preventive therapeutic measures and, therefore, reducing the risk of malignant arrhythmias and even sudden cardiac death. Occasionally, this lethal event can be the first manifestation of cardiomyopathy, with or without a clear structural defect. In cases of sudden death, especially in young patients, the autopsy may be ambiguous and therefore lack a definitive diagnosis of cardiomyopathy, although it can sometimes identify signs that lead us to suspect it. This is one of the current challenges of forensic science, where occult cardiomyopathies often remain unidentified without additional testing that is not routinely included in current forensic protocols. In this protocol, it is crucial to perform a molecular autopsy but also to include additional data, especially family history, that will help conclude or at least suspect this entity. Obtaining this diagnosis or suspicion of concealed cardiomyopathy not only provides an answer to the unexpected death but also helps the relatives determine the cause of death. In addition, physicians should initiate a family assessment to identify other family members who may be at risk early and adopt personalized preventive measures. Full article
(This article belongs to the Special Issue Research Updates in Forensic Genetics)
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