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Genes
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Recent Progress in Forensic Genetics and Molecular Identification
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Recent Progress in Forensic Genetics and Molecular Identification

A Special Issue of Genes (ISSN 2073-4425) belonging to the section "Molecular Genetics and Genomics".

Deadline for manuscript submissions: 25 October 2026 | Viewed by 2802

Editor

Dr. Maria Saiz

E-Mail Website
Guest 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 Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleague,

Recent advances in forensic genetics and molecular identification are transforming the way biological evidence is analyzed, interpreted and applied in criminal investigations. High‑resolution sequencing technologies, including massively parallel sequencing, have expanded the capacity to characterize genetic markers with unprecedented precision, enabling improved individualization, ancestry inference and phenotypic prediction. At the same time, innovations in trace DNA analysis and enhanced extraction methods now allow reliable profiling from increasingly challenging samples, such as degraded, mixed, or environmentally exposed material.

Emerging approaches—ranging from epigenetic age estimation to microbiome‑based identification—are broadening the scope of forensic inquiry beyond traditional STR profiling. These tools offer new avenues for reconstructing biological histories, estimating activity levels and refining investigative leads. Moreover, the integration of bioinformatic pipelines and statistical frameworks is strengthening the robustness and transparency of forensic interpretations.

This Special Issue aims to highlight cutting‑edge research that advances the scientific foundations of forensic genetics.

Dr. Maria Saiz
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-anonymized 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

  • forensic genetics
  • molecular identification
  • next generation sequencing
  • trace DNA analysis
  • challenging samples

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Related Special Issue

Published Papers (2 papers)

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Research

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17 pages, 863 KB  
Article
Population Genetic Data for 23 STR Loci of the Maya Chortí Ethnic Group in Honduras
by Antonieta Zuniga, Yolly Molina, Karen Amaya, Zintia Moya, Patricia Soriano, Digna Pineda, Yessica Pinto, Saulo Romero, Oscar Garcia and Isaac Zablah
Genes 2026, 17(7), 809; https://doi.org/10.3390/genes17070809 - 16 Jul 2026
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Abstract
Background: The Maya Chortí are a Mesoamerican Indigenous group of approximately 33,256 individuals in Copán and Ocotepeque, western Honduras, historically, linguistically, and culturally linked to the Classic Maya tradition of Copán. No population-specific autosomal short tandem repeat (STR) reference dataset had previously been [...] Read more.
Background: The Maya Chortí are a Mesoamerican Indigenous group of approximately 33,256 individuals in Copán and Ocotepeque, western Honduras, historically, linguistically, and culturally linked to the Classic Maya tradition of Copán. No population-specific autosomal short tandem repeat (STR) reference dataset had previously been available, requiring forensic calculations to use non-representative databases. Methods: Allele frequencies for 23 autosomal STR loci were estimated in 100 unrelated Maya Chortí individuals from Copán and Ocotepeque. DNA from blood on FTA cards was amplified with the PowerPlex Fusion 6C System. Hardy–Weinberg equilibrium (HWE), pairwise linkage disequilibrium (LD), diversity indices, forensic parameters, inter-population FST, and random match probabilities with and without NRC-II θ-correction (θ = 0.01 and 0.03) were calculated using Genepop, Arlequin, and STRAF. Results: A total of 212 alleles were detected. Expected heterozygosity was high across the panel. After Bonferroni correction, no locus departed from HWE, and no locus pair showed significant LD. The combined random match probability was 1.17 × 10−23, very low, and remained highly discriminating under NRC-II θ-correction; the combined chance of exclusion exceeded 99.99%. Conclusions: This study provides the first autosomal STR reference database for the Maya Chortí of Honduras, enabling population-specific likelihood ratio estimation in forensic identification, paternity testing, and kinship analysis, while expanding the genetic characterization of Mesoamerican Indigenous populations under CODIS/ESS standards. Full article
(This article belongs to the Special Issue Recent Progress in Forensic Genetics and Molecular Identification)
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Review

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25 pages, 5130 KB  
Review
Methodological Advances in Mitochondrial DNA Analysis for Forensic Genetics
by Víctor Daniel Carrillo-Rodríguez, Carina Amalinalli Ruiz-Villavicencio, María Teresa Navarro-Romero, Héctor Rangel-Villalobos and Cecilia Martínez-Campos
Genes 2026, 17(6), 609; https://doi.org/10.3390/genes17060609 - 28 May 2026
Cited by 2 | Viewed by 1790
Abstract
Mitochondrial DNA (mtDNA) analysis is a fundamental tool in forensic genetics, particularly when biological samples exhibit severe degradation or low nuclear DNA content. Its unique biological characteristics, such as a high copy number per cell, strict matrilineal inheritance, and lack of recombination, enable [...] Read more.
Mitochondrial DNA (mtDNA) analysis is a fundamental tool in forensic genetics, particularly when biological samples exhibit severe degradation or low nuclear DNA content. Its unique biological characteristics, such as a high copy number per cell, strict matrilineal inheritance, and lack of recombination, enable human identification and reconstruction of maternal lineages in complex contexts, including disaster victim identification, historical cases, and missing persons investigations. This narrative review examines contemporary methodological approaches for investigating the human mitogenome. We discuss recent advancements in extraction and enrichment techniques, emphasizing their efficacy in reducing the interference of nuclear mitochondrial DNA sequences (NUMTs) and enhancing the recovery of informative fragments. Moreover, the shift from traditional Sanger sequencing to Massive Parallel Sequencing (MPS) is examined, as MPS has markedly enhanced the sensitivity and capability of contemporary methods to detect low-frequency heteroplasmies. Additionally, the advent of Third-Generation Sequencing (TGS), exemplified by nanopore platforms, is evaluated, which facilitates the reading of full-length native molecules without the biases introduced by PCR amplification. Despite the interpretive challenges posed by heteroplasmy, contamination, and limitations in population databases, ongoing methodological advances in mitochondrial DNA analysis continue to strengthen its reliability and expand its potential in forensic genetics. Full article
(This article belongs to the Special Issue Recent Progress in Forensic Genetics and Molecular Identification)
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