Forensic Genetics: Human DNA Database and Genetic Structure

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

Deadline for manuscript submissions: closed (25 November 2024) | Viewed by 2694

Special Issue Editor


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Guest Editor
Department of Forensic Genetics, West China School of Basic Medical Sciences and Forensic Medicine, Sichuan University, Chengdu 610041, China
Interests: forensic genetics; challenging DNA analysis; genetic marker; kinship analysis; DNA mixtures; ancestry inference

Special Issue Information

Dear Colleagues,

Forensic genetics is a pivotal field in criminal investigations and identity verification, and one of its most important assets is human DNA databases, which play a crucial role in solving and preventing crimes. However, the construction and utilization of such databases pose data privacy protection, legal, and ethical concerns, and can lead to complexities with regard to international cooperation. Another important area in this field is understanding the genetic structure of different populations; this is essential for improving the accuracy and efficiency of DNA analysis, as factors such as genetic diversity, admixture, and familial relationships can all influence the results.

This Special Issue is dedicated to reporting research findings and best practices in human DNA databases and analyzing the genetic structure within forensic genetics, with particular focus on the following topics:

  1. Establishment and management of human DNA databases: exploring how to build and maintain efficient DNA databases while ensuring privacy and data security.
  2. Genetic structure analysis: investigating the genetic diversity of different populations and applying this knowledge to forensic DNA analysis.
  3. Legal and ethical issues: discussing the legal frameworks and ethical considerations in the application of DNA databases to ensure legitimacy and societal acceptance.
  4. Technological innovations and optimization: showcasing the latest technological innovations and optimized solutions in DNA sampling, extraction, analysis, and data processing.

Prof. Dr. Weibo Liang
Guest Editor

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Keywords

  • forensic genetics
  • human DNA databases
  • human identification
  • short-tandem repeats (STRs)
  • novel genetic markers
  • DNA analysis
  • technological innovations
  • legal and ethical issues
  • genetic structure analysis
  • sequencing analysis

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Published Papers (2 papers)

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Research

15 pages, 1631 KiB  
Article
Comparative Study of Statistical Approaches and SNP Panels to Infer Distant Relationships in Forensic Genetics
by Andreas Tillmar and Daniel Kling
Genes 2025, 16(2), 114; https://doi.org/10.3390/genes16020114 - 21 Jan 2025
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Abstract
Background/Objectives: Inferring genetic relationships based on genetic data has gained an increasing focus in the last years, in particular explained by the rise of forensic investigative genetic genealogy (FIGG) but also the introduction of expanded SNP panels in forensic genetics. A plethora [...] Read more.
Background/Objectives: Inferring genetic relationships based on genetic data has gained an increasing focus in the last years, in particular explained by the rise of forensic investigative genetic genealogy (FIGG) but also the introduction of expanded SNP panels in forensic genetics. A plethora of statistical methods are used throughout publications; in direct-to-consumer (DTC) testing, the shared segment approach is used, in screenings of relationships in medical genetic research, for instance, methods-of-moment estimators, e.g., estimation of the kinship coefficient, are used, and in forensic genetics, the likelihood and the likelihood ratio are commonly used to evaluate the genetic data under competing hypotheses. This current study aims to compare and contrast examples of the aforementioned statistical methods to infer relationships from genetic data. Methods/Results: This study includes some historical and some recently published panels of SNP markers to illustrate the strength and caveats of the statistical methods on different marker sets and a selection of pre-defined pairwise relationships, 1st through 7th degree. Extensive simulations are performed and subsequently subsetted based on the marker panels alluded to above. As has been shown in previous research, the likelihood ratio is most powerful, i.e., high correct classifications, when SNP data are sparse, say below 20,000 markers, whereas the windowed kinships and segment approaches are equally powerful when very dense SNP data are available, say >20,000 markers. In between lay approaches using method-of-moments estimators which perform well when the degree of relationship is below four but less so beyond, say, 4th degree relationships. The likelihood ratio is the only method that is easily adapted for non-pairwise tests and therefore has an additional depth not addressed in the current study. We furthermore perform a study of genotyping error rates and their impact on the different statistical methods employed to infer relationships, where the results show that error rates below 1% seem to have low impact across all methods, in particular for errors yielding false heterozygote genotypes. Full article
(This article belongs to the Special Issue Forensic Genetics: Human DNA Database and Genetic Structure)
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10 pages, 924 KiB  
Article
Forensic STR Loci and Schizophrenia: An Exploration of Implications for Forensic Applications and Genetic Privacy
by Qi Yang, Chun Yang, Zhiqi Hua, Qi Shen, Anqi Chen, Huajie Ba and Suhua Zhang
Genes 2024, 15(12), 1525; https://doi.org/10.3390/genes15121525 - 27 Nov 2024
Viewed by 924
Abstract
Background/Objectives: Short tandem repeat (STR) loci are widely used in forensic genetics for identification and kinship analysis. Traditionally, these loci were selected to avoid medical associations, but recent studies suggest that loci such as TH01 and D16S539 may be linked to psychiatric conditions [...] Read more.
Background/Objectives: Short tandem repeat (STR) loci are widely used in forensic genetics for identification and kinship analysis. Traditionally, these loci were selected to avoid medical associations, but recent studies suggest that loci such as TH01 and D16S539 may be linked to psychiatric conditions like schizophrenia. This study explores these potential associations and considers the privacy implications related to disease susceptibility. Methods: We analyzed 19 STR loci, including CODIS core loci and additional loci like Penta D and Penta E. Statistical analyses were conducted on a dataset of schizophrenia patients and matched control individuals to assess the relationship between STR polymorphisms and schizophrenia risk. Results: No significant associations were found between the 19 analyzed loci and schizophrenia in this dataset. While initial analyses revealed minor allele frequency differences at the D3S1358, D13S317, and TPOX loci between the schizophrenia and control groups, these differences did not retain statistical significance following Bonferroni correction (corrected p < 0.0026 for all loci). Conclusions: Although no significant associations were found between STR loci and schizophrenia, this study highlights the importance of considering the potential for forensic DNA data to reveal health-related information. As forensic DNA databases continue to expand, there is a growing need to reassess ethical and legal guidelines to ensure the protection of individual privacy. Future research should continue exploring these genetic associations with larger, more diverse samples to further understand their implications. Full article
(This article belongs to the Special Issue Forensic Genetics: Human DNA Database and Genetic Structure)
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