Advances in Forensic Genetics and DNA

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

Deadline for manuscript submissions: 20 April 2026 | Viewed by 2468

Special Issue Editor

Laboratory of Genetic Identification, Department of Legal Medicine, Toxicology and Physical, Faculty of Medicine, University of Granada, 18016 Granada, Spain
Interests: forensic genetics; human identification; next generation sequencing

Special Issue Information

Dear Colleagues,

The field of forensic genetics has experienced remarkable advancements, revolutionizing the investigation of crime and identification processes. DNA profiling, once limited to basic matching techniques, now encompasses cutting-edge technologies such as next-generation sequencing, epigenetic markers, and ancestry analysis. These innovations enable the identification of individuals with unprecedented precision, even in complex cases involving degraded or mixed samples. Furthermore, breakthroughs in rapid DNA technology allow expedited processing, aiding real-time decision-making in criminal investigations.

Beyond its traditional role, forensic genetics contributes to societal challenges like disaster victim identification, human trafficking, and cold cases. Ethical considerations, data security, and the regulation of genetic information remain critical discussions as the field evolves. This Special Issue highlights emerging methodologies, case applications, and interdisciplinary perspectives, aiming to foster scientific collaboration and address both the potential and the challenges of forensic genetics in modern society.

Dr. Maria Saiz
Guest Editor

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Keywords

  • human identification
  • crime scene investigation
  • next generation sequencing
  • forensic investigative genetic genealogy
  • lineage markers
  • DNA methylation
  • disaster victim identification

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Published Papers (4 papers)

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Research

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15 pages, 2328 KB  
Article
Forensic Identification of Cannabis with Plant DNA Barcodes and Cannabinoid Synthesis Genes
by Ping Xiang, Yu Wei Phua, Afiqah Razanah Rosli, Kar Jun Loh and Christopher Kiu-Choong Syn
Genes 2025, 16(11), 1320; https://doi.org/10.3390/genes16111320 - 2 Nov 2025
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Abstract
Background/Objectives: According to the World Drug Report 2025, cannabis is the most abused drug in the world, being sold in illicit markets in various physical forms ranging from herbal cannabis to cannabis resin and liquid cannabis. Currently, the methods used for cannabis identification [...] Read more.
Background/Objectives: According to the World Drug Report 2025, cannabis is the most abused drug in the world, being sold in illicit markets in various physical forms ranging from herbal cannabis to cannabis resin and liquid cannabis. Currently, the methods used for cannabis identification are largely based on the morphological features and chemical content of the product. In this respect, identification could be severely impacted if the product is highly fragmented or pulverised. As such, DNA-based molecular techniques offer a viable alternative detection approach. In this study, we have developed a robust DNA testing method for cannabis identification, with high sensitivity and specificity. Methods/Results: Two plant DNA barcode regions, rbcL and matK, were successfully amplified in a cohort of 54 cannabis plant samples. DNA sequences obtained from these samples were blast-searched against GenBank and resulted in returned matched identity of at least 99% compared to their corresponding Cannabis sativa reference sequences. In addition, the amplification of two cannabis-unique markers, the tetrahydrocannabinolic acid synthase (THCAS) and cannabidiolic acid synthase (CBDAS) genes, produced amplicons with expected sizes only in cannabis samples; these amplicons were not detected in those plants closely related to cannabis. Sequence comparison of the majority of samples yielded at least 97% matched identity against C. sativa reference sequences in GenBank. The THCAS and CBDAS markers detected only the cannabis DNA in varying levels of cannabis–hops and cannabis–tobacco DNA mixtures. Lastly, the use of the four markers could effectively differentiate between cannabis and non-cannabis in 27 blinded samples, including 18 actual casework samples. Conclusions: In conclusion, these four genetic markers can be used to discriminate cannabis from other plant species at the genus level, especially in challenging forensic samples lacking morphological features which therefore cannot be determined by traditional detection methods. As such, this method can complement existing techniques to identify a myriad of cannabis samples. Full article
(This article belongs to the Special Issue Advances in Forensic Genetics and DNA)
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17 pages, 2929 KB  
Article
Assessment of DNA Transfer on Drug Packages in Simulated Vehicular and Household Settings
by Xiaoyang Li, Yong Sheng Lee, Hui Wen Yeo, Marlene Abdul Mugni, Nurul Insyirah Binte Ishak, Sabrina Binte Mustaffa, Nadira Binte Murad, Nurulain Haziqah Binte Ngatimin and Christopher Kiu-Choong Syn
Genes 2025, 16(11), 1264; https://doi.org/10.3390/genes16111264 - 27 Oct 2025
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Abstract
Background: DNA evidence can play a critical role during the investigation of illicit drugs cases. A key challenge, however, is in determining whether DNA profiles recovered on the evidence items, such as drug packages, arise from direct handling or indirect transfer. Methods [...] Read more.
Background: DNA evidence can play a critical role during the investigation of illicit drugs cases. A key challenge, however, is in determining whether DNA profiles recovered on the evidence items, such as drug packages, arise from direct handling or indirect transfer. Methods: In this respect, we simulated common drug offense scenarios where illicit drugs were discovered inside vehicular or household settings that can be linked to the suspect. DNA transfer was evaluated based on two hypothetical propositions: (1) the individual’s DNA was directly deposited onto the mock drug packages through handling, or alternatively (2) DNA persisting on a particular surface had transferred onto the packages. For the direct transfer scenario, 15 participants were requested to pack the mock drug packages using their bare hands. For the indirect transfer scenario, DNA-free mock drug packages were placed at various locations in 15 vehicles and 15 bedrooms for different time intervals. Following each scenario, DNA samples were collected from multiple areas of the mock drug packages. DNA transfer was assessed based on quantification and profiling results, which were subsequently evaluated within a Bayesian network-based framework. Results: Higher DNA transfer frequencies onto the mock drug packages were observed in the direct-handling experiment compared to those from indirect transfer, suggesting that DNA transfer occurs to a higher degree from active contact. In direct-handling scenarios, the amount of DNA recovered from the handles of the carrier bags was much higher than that from the exterior bodies, indicating preferential DNA deposition at the contact areas. Conversely, the results from indirect transfer scenarios showed similar recovered DNA amounts between the handles and the exterior bodies of the carrier bags, with minimal transfer to the interior surfaces. These findings indicate that the likelihood of recovering DNA from specific areas of evidence items can be linked to the particular activities and transfer mechanisms involved. Conclusions: The findings of this study expand the empirical knowledge of DNA transfer processes across diverse forensic contexts. Full article
(This article belongs to the Special Issue Advances in Forensic Genetics and DNA)
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18 pages, 1498 KB  
Article
Mixture Deconvolution with Massively Parallel Sequencing Data: Microhaplotypes Versus Short Tandem Repeats
by Monica Giuffrida, Pedro Rodrigues, Zehra Köksal, Carina G. Jønck, Vania Pereira and Claus Børsting
Genes 2025, 16(9), 1105; https://doi.org/10.3390/genes16091105 - 18 Sep 2025
Viewed by 743
Abstract
Background/Objectives: Interpretation of mixture profiles generated from crime scene samples is an important element in forensic genetics. Here, a workflow for mixture deconvolution of sequenced microhaplotypes (MHs) and STRs using the probabilistic genotyping software MPSproto v0.9.7 was developed, and the performance of the [...] Read more.
Background/Objectives: Interpretation of mixture profiles generated from crime scene samples is an important element in forensic genetics. Here, a workflow for mixture deconvolution of sequenced microhaplotypes (MHs) and STRs using the probabilistic genotyping software MPSproto v0.9.7 was developed, and the performance of the two types of loci was compared. Methods: Sequencing data from a custom panel of 74 MHs (the MH-74 plex) and a commercial kit with 26 autosomal STRs (the ForenSeq™ DNA Signature Prep Kit) were used. Single-source profiles were computationally combined to create 360 two-person and 336 three-person mixtures using the Python script MixtureSimulator v1.0. Additionally, 72 real mixtures typed with the MH-74 plex and 18 real mixtures typed with the ForenSeq Kit from a previous study were deconvoluted using MPSproto. Results: The deconvoluted MH profiles were more complete and had fewer wrong genotype calls than the deconvoluted STR profiles. The contributor proportion estimates were more accurate for MH profiles than for STR profiles. Wrong genotype calls were mostly caused by locus and heterozygous imbalances, noise reads, or an inaccurate contributor proportion estimation. The latter was especially problematic in STR sequencing data, when two contributors contributed equally to the mixture. A total of 34,800 deconvolutions of the simulated mixtures were performed with two defined hypotheses: Hp, “The sample consists of DNA from one/two unknown contributor(s) and the suspect” and Hd, “The sample consists of DNA from two/three unknown individuals”. All true contributors were identified (LR > 1015 for MHs and LR > 109 for STRs) and all non-contributors excluded (LR < 10−6 for MHs and LR < 0.2 for STRs). Conclusions: In simulated and real mixtures, the MHs performed better than STRs. Full article
(This article belongs to the Special Issue Advances in Forensic Genetics and DNA)
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Review

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14 pages, 866 KB  
Review
Genetic Prediction of Eye, Hair, and Skin Color: Forensic Applications and Challenges in Latin American Populations
by Beatriz Armida Flores-López, Anna Guadalupe López-Ceballos, Cristal Azucena López-Aguilar, Manuel Alejandro Rico-Méndez, Kesia Lyvier Acosta-Ramírez, Alan Cano-Ravell, Gildardo Gembe-Olivarez, Andres López-Quintero, José Alonso Aguilar-Velázquez, Jorge Adrian Ramírez-de-Arellano Sánchez and José Miguel Moreno-Ortiz
Genes 2025, 16(10), 1227; https://doi.org/10.3390/genes16101227 - 16 Oct 2025
Viewed by 870
Abstract
Forensic DNA phenotyping (FDP) is an important innovation approach in forensics sciences, especially when traditional DNA profiling results are limited, mostly due to the absence of reference samples. FDP is based on the detection of genetic variants in specific genes whose function is [...] Read more.
Forensic DNA phenotyping (FDP) is an important innovation approach in forensics sciences, especially when traditional DNA profiling results are limited, mostly due to the absence of reference samples. FDP is based on the detection of genetic variants in specific genes whose function is related to pigmentation mechanisms and uses the genotypes found in the sample to determine the externally visible traits (EVT) such as the iris, hair, and skin tone or color of the individual; this prediction would help and expedite human identification processes and solve criminal cases. Several technologies have been developed to facilitate EVT prediction; however, most of them have been validated only in European populations. Implementing techniques for FDP in Latin American countries is essential given the problems of disappearance and human identification that have persisted for years. Nonetheless, scientists have a great challenge due to the admixed genetic structure of the population. This review explores the current application of FDP, emphasizing its significance, practical uses, and limitations within Latin American populations. Full article
(This article belongs to the Special Issue Advances in Forensic Genetics and DNA)
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