External visible characteristics prediction through SNPs analysis in the forensic setting: a review

Tozzo, Pamela; Politi, Caterina; Delicati, Arianna; Gabbin, Andrea; Caenazzo, Luciana

doi:10.52586/4991

Cited by 12 publications

(7 citation statements)

References 123 publications

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“…In the last seven years, advancements have been made in genetic investigations in forensic sciences with the possibility of obtaining a complete DNA profile [32,74,75] and a forensic DNA phenotyping panel using massive parallel sequencing [76][77][78] with a small number of cells. In this context, the forensic laboratory has to establish the nature of the trace [79] as well as define reliable methods to establish the time since deposition [80].…”

Section: Discussionmentioning

confidence: 99%

Indirect DNA Transfer and Forensic Implications: A Literature Review

Sessa,

Pomara,

Esposito

et al. 2023

Genes

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Progress in DNA profiling techniques has made it possible to detect even the minimum amount of DNA at a crime scene (i.e., a complete DNA profile can be produced using as little as 100 pg of DNA, equivalent to only 15–20 human cells), leading to new defense strategies. While the evidence of a DNA trace is seldom challenged in court by a defendant’s legal team, concerns are often raised about how the DNA was transferred to the location of the crime. This review aims to provide an up-to-date overview of the experimental work carried out focusing on indirect DNA transfer, analyzing each selected paper, the experimental method, the sampling technique, the extraction protocol, and the main results. Scopus and Web of Science databases were used as the search engines, including 49 papers. Based on the results of this review, one of the factors that influence secondary transfer is the amount of DNA shed by different individuals. Another factor is the type and duration of contact between individuals or objects (generally, more intimate or prolonged contact results in more DNA transfer). A third factor is the nature and quality of the DNA source. However, there are exceptions and variations depending on individual characteristics and environmental conditions. Considering that secondary transfer depends on multiple factors that interact with each other in unpredictable ways, it should be considered a complex and dynamic phenomenon that can affect forensic investigation in various ways, for example, placing a subject at a crime scene who has never been there. Correct methods and protocols are required to detect and prevent secondary transfer from compromising forensic evidence, as well as the correct interpretation through Bayesian networks. In this context, the definition of well-designed experimental studies combined with the use of new forensic techniques could improve our knowledge in this challenging field, reinforcing the value of DNA evidence in criminal trials.

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Section: Discussionmentioning

confidence: 99%

Indirect DNA Transfer and Forensic Implications: A Literature Review

Sessa,

Pomara,

Esposito

et al. 2023

Genes

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“…However, the accuracy varies greatly depending on the sample, hence they work better on the tested population (usually homogeneous and European populations) and non-forensic samples – forensic samples can be degraded and have low amount of DNA, and tend to give partial profiles – translating into a more complex interpretation of accuracy values. Other traits, such as the presence or absence of freckles, eyebrow colour, male pattern-baldness and hair morphology (Tozzo et al, 2021), are being extensively researched and can be better predicted, compared with other extremely complex traits like weight or height (Dabas et al, 2022). Moreover, the current focus is on understanding the facial complexities, because this is the most differentiating trait among humans.…”

Section: Assessing the Lawfulness Of Personal Data Processing: The El...mentioning

confidence: 99%

Forensic DNA phenotyping: Privacy breach, bias reification and the pitfalls of abstract assessments of rights

Coquet,

Terrado-Ortuño

2023

International Journal of Police Science & Management

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Although the practical benefits of forensic DNA phenotyping (FDP) in criminal investigations remain unclear, this emerging forensic technology is the subject of increasing interest from various European stakeholders. However, the risks that the technology poses to data privacy, as well as its negative impact on racialized sub-populations are well documented. Yet, we argue that the abstract nature of the current legal framework and judicial review allows predictive technologies with uncertain outcomes, such as FDP, to still be considered socially desirable while normalizing their adverse consequences on human rights and social equity. We also argue that criminal law and criminal sciences are in a synergistic relationship in which the reification of socially constructed categories of deviancy by forensic technologies contributes to the legitimization of the repressive apparatus, which in turn calls for the use of more investigative tools despite their inherent pitfalls or limits. We conclude with the need to be mindful of this phenomenon when analysing the social costs attached to emerging forensic technologies, as well as to request disclosure from public authorities of comprehensive data regarding its concrete benefits.

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“…In particular, these approaches concentrate on age, phenotypic traits (such as eye, skin, and hair color), and biogeographic origin prediction. While the phenotypic characteristics and biogeographical origins are mainly studied through the analysis of specific SNP groups, age prediction is primarily conducted through the analysis of specific epigenetics patterns [ 1 , 2 ].…”

Section: Introductionmentioning

confidence: 99%

Forensic Age Estimation through a DNA Methylation-Based Age Prediction Model in the Italian Population: A Pilot Study

Onofri

Delicati

Marcante

et al. 2023

IJMS

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DNA methylation is one of the epigenetic marks which has been studied intensively in recent years for age predicting purposes in the forensic area. In order to integrate age prediction into routine forensic workflow, the purpose of this study was to standardize and optimize a DNA methylation-based protocol tailored to the Italian context. A previously published protocol and age-predictive method was implemented for the analysis of 84 blood samples originating from Central Italy. The study here presented is based on the Single Base Extension method, considering five genes: ELOVL2, FHL2, KLF14, C1orf132, now identified as MIR29B2C, and TRIM59. The precise and specific steps consist of DNA extraction and quantification, bisulfite conversion, amplification of converted DNA, first purification, single base extension, second purification, capillary electrophoresis, and analysis of the results to train and test the tool. The prediction error obtained, expressed as mean absolute deviation, showed a value of 3.12 years in the training set and 3.01 years in the test set. Given that population-based differences in DNA methylation patterns have been previously reported in the literature, it would be useful to further improve the study implementing additional samples representative of the entire Italian population.

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External visible characteristics prediction through SNPs analysis in the forensic setting: a review

Cited by 12 publications

References 123 publications

Indirect DNA Transfer and Forensic Implications: A Literature Review

Indirect DNA Transfer and Forensic Implications: A Literature Review

Forensic DNA phenotyping: Privacy breach, bias reification and the pitfalls of abstract assessments of rights

Forensic Age Estimation through a DNA Methylation-Based Age Prediction Model in the Italian Population: A Pilot Study

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