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Background: Forensic DNA phenotyping (FDP) consists of the use of methodologies for predicting externally visible characteristics (EVCs) from the genetic material of biological samples found in crime scenes and has proven to be a promising tool in aiding human identification in police activities. Currently, methods based on multiplex assays and statistical models of prediction of EVCs related to hair, skin, and iris pigmentation using panels of SNP and INDEL biomarkers have already been developed and validated by the forensic scientific community. As well as traces of pigmentation, an individual's perceived age (PA) can also be considered an EVC and its estimation in unknown individuals can be useful for the progress of investigations. Liu and colleagues (2016) were pioneers in evidencing that, in addition to lifestyle and environmental factors, the presence of SNP and INDEL variants in the MC1R gene — which encodes a transmembrane receptor responsible for regulating melanin production — seems to contribute to an individual's PA. The group highlighted the association between these MC1R gene polymorphisms and the PA in the European population, where carriers of risk haplotypes appeared to be up to 2 years older in comparison to their chronological age (CA). Purpose: Understanding that genotype–phenotype relationships cannot be extrapolated between different population groups, this study aimed to test this hypothesis and verify the applicability of this variant panel in the Rio Grande do Sul admixed population. Methods: Based on genomic data from a sample of 261 volunteers representative of gaucho population and using a multiple linear regression (MLR) model, our group was able to verify a significant association among nine intronic variants in loci adjacent to MC1R (e.g., AFG3L1P, TUBB3, FANCA) and facial age appearance, whose PA was defined after age heteroclassification of standard frontal face images through 11 assessors. Results: Different from that observed in European populations, our results show that the presence of effect alleles (R) of the selected variants in our sample influenced both younger and older face phenotypes. The influence of each variant on PA is expressed as β values. Conclusions: There are important molecular mechanisms behind the effects of MC1R locus on PA, and the genomic background of each population seems to be crucial to determine this influence. [ABSTRACT FROM AUTHOR]

Forensic DNA phenotyping (FDP) encompasses a set of technologies aimed at predicting phenotypic characteristics from genotypes. Advocates of FDP present it as the future of forensics, with an ultimate goal of producing complete, individualised facial composites based on DNA. With a focus on individuals and promised advances in technology comes the assumption that modern methods are steadily moving away from racial science. Yet in the quantification of physical differences, FDP builds upon some nineteenth- and twentieth-century scientific practices that measured and categorised human variation in terms of race. In this article I complicate the linear temporal approach to scientific progress by building on the notion of the folded object. Drawing on ethnographic fieldwork conducted in various genetic laboratories, I show how nineteenth- and early twentieth-century anthropological measuring and data-collection practices and statistical averaging techniques are folded into the ordering of measurements of skin color data taken with a spectrophotometer, the analysis of facial shape based on computational landmarks and the collection of iris photographs. Attending to the historicity of FDP facial renderings, I bring into focus how race comes about as a consequence of temporal folds. [ABSTRACT FROM AUTHOR]

Forensic DNA Phenotyping (FDP) is a set of techniques that aim to infer externally visible characteristics in humans – such as eye, hair and skin color – and biogeographical ancestry of an unknown person, based on biological material. FDP has been applied in various jurisdictions in a limited number of high-profile cases to provide intelligence for criminal investigations. There are on-going controversies about the reliability and validity of FDP, which come together with debates about the ethical challenges emerging from the use of this technology in the criminal justice system. Our study explores how, in the context of complex politics of legitimation of and contestation over the use of FDP, forensic geneticists in Europe perceive this technology's potential applications, utility and risks. Forensic geneticists perform several forms of discursive boundary work, making distinctions between science and the criminal justice system, experts and non-experts, and good and bad science. Such forms of boundary work reconstruct the complex positioning vis-à-vis legal and scientific realities. In particular, while mobilizing interest in FDP, forensic geneticists simultaneously carve out notions of risk, accountability and scientific conduct that perform distance from FDP' implications in the criminal justice system. [ABSTRACT FROM AUTHOR]

Forensic DNA phenotyping is a rapidly advancing field that seeks to predict an individual's physical appearance from their DNA profile. The ability to infer phenotypic traits, such as eye colour, hair colour, skin colour, and facial features from DNA evidence holds significant potential for criminal investigations especially when traditional investigative methods such as DNA profiling yield limited results. Forensic DNA Phenotyping (FDP) has now become one of the beneficial methods which aids in police investigation to narrow down the investigative procedure in various types of forensic cases such as identification of unknown in mass disaster case or unknown perpetrator who cannot be identified by the help of forensic STR- profiling. Benefits of FDP is that it has overcome to limitations that exist with conventional methods of human identification as it can predict individual's externally visible characteristics (EVCs) from DNA as well as it is more focused on obtaining genetic profiles from crime scene samples not harming dignity or integrity rights of individual. Phenotype of individual can be identified by help of Tools which can predict physical characteristics of individual. IrisPlex is the first tool which predict Eye colour, HIrisPlex is the tool which can predict both eye colour and Hair colour whereas HIrisPlex-S can predict skin colour, hair colour as well as eye colour so, Forensic DNA Phenotype has benefits over other traditional methods and can help law enforcement to solve criminal as soon as possible. [ABSTRACT FROM AUTHOR]

Human ear morphology prediction with SNP-based genotypes is growing in forensic DNA phenotyping and is scarcely explored in Pakistan as a part of EVCs (externally visible characteristics). The ear morphology prediction assays with 21 SNPs were assessed for their potential utility in forensic identification of population. The SNaPshot™ multiplex chemistries, capillary electrophoresis methods and GeneMapper™ software were used for obtaining genotypic data. A total of 33 ear phenotypes were categorized with digital photographs of 300 volunteers. SHEsis software was applied to make LD plot. Ordinal and multinomial logistic regression was implemented for association testing. Multinomial logistic regression was executed to construct the prediction model in 90% training and 10% testing subjects. Several influential SNPs for ear phenotypic variation were found in association testing. The model based on genetic markers predicted ear phenotypes with moderate to good predictive accuracies demonstrated with the area under curve (AUC), sensitivity and specificity of predicted phenotypes. As an additional EVC, the estimated ear phenotypic profiles have the possibility of determining the human ear morphology differences in unknown biological samples found in crimes that do not result in a criminal database hit. Furthermore, this can help in facial reconstruction and act as an investigational lead. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Automated facial recognition, the use of dactyloscopic data and advanced forensic DNA analyses are becoming dominant technological surveillance means for 'crimmigration' control. 'Crimmigration' describes the increasing criminalisation of migration, based on a perceived 'crisis' of mass migration and its assumed negative impact on national stability and welfare, materialising in overlapping crime and migration control regimes. We analyse the policing of migration through biometric technologies as the reproduction of social practices of security against crime. By combining concepts of social practices and ethical regimes, we suggest that biometric ethical regimes are constituted by social practices working towards legitimising the use of biomaterials and biodata. This analytical synthesis supports us in exploring how biometric technologies deployed in the policing of crime circulate into the policing of migration and vice versa. First, technologies as materials (DNA, fingerprints, facial images, analysis kits, databases, etc.) are inscribed with assumptions about validating identity and suspicion, and are increasingly made accessible as data across policy domains. Second, forensic competence moves in abstracted forms of expertise independent of context and ethics of application, creating challenges for reliable and legitimate technology deployment. Third, biometric technologies, often portrayed as reliable, useful, accurate policing tools, travel from crime into migration control with meanings that construct generalised criminal suspicion of migrants. To evidence the complexity and difficulty of achieving accountability and responsibility for the ethical governance of biometric technologies in policing, we trace how the goals, risks, benefits and values of biometric technologies are framed, and how the legitimacy of their deployment in policing of migration is constructed and negotiated. [ABSTRACT FROM AUTHOR]

It is very important to generate phenotypic results that are reliable when processing chronological old skeletal remains for cases involving the identification of missing persons. To improve the success of pigmentation prediction in Second World War victims, three bones from each of the eight skeletons analyzed were included in the study, which makes it possible to generate a consensus profile. The PowerQuant System was used for quantification, the ESI 17 Fast System was used for STR typing, and a customized version of the HIrisPlex panel was used for PCR-MPS. The HID Ion Chef Instrument was used for library preparation and templating. Sequencing was performed with the Ion GeneStudio S5 System. Identical full profiles and identical hair and eye color predictions were achieved from three bones analyzed per skeleton. Blue eye color was predicted in five skeletons and brown in three skeletons. Blond hair color was predicted in one skeleton, blond to dark blond in three skeletons, brown to dark brown in two skeletons, and dark brown to black in two skeletons. The reproducibility and reliability of the results proved the multisample analysis method to be beneficial for phenotyping chronological old skeletons because differences in DNA yields in different bone types provide a greater possibility of obtaining a better-quality consensus profile. [ABSTRACT FROM AUTHOR]

In the last few years, predicting externally visible characteristics (EVCs) by adopting informative DNA molecular markers has become a method in forensic genetics that has increased its value, giving rise to an interesting field called "Forensic DNA Phenotyping" (FDP). The most meaningful forensic applications of EVCs prediction are those in which, having only a DNA sample isolated from highly decomposed remains, it is essential to reconstruct the physical appearance of a person. Through this approach, we set out to evaluate 20 skeletal remains of Italian provenance in order to associate them with as many cases of missing persons as possible. To achieve the intended goal, in this work we applied the HIrisPlex-S multiplex system through the conventional short tandem repeats (STR) method to confirm the expected identity of subjects by evaluating phenotypic features. To investigate the reliability and accuracy of the DNA-based EVCs prediction, pictures of the cases were compared as they were available to researchers. Results showed an overall prediction accuracy greater than 90% for all three phenotypic features—iris, hair, and skin colour—at a probability threshold of 0.7. The experimental analysis showed inconclusive results in only two cases; this is probably due to the characteristics of subjects who had an intermediate eye and hair colour, for which the DNA-based system needs to improve the prediction accuracy. [ABSTRACT FROM AUTHOR]

DNA Intelligence is relatively new concept which relies on providing phenotypic information about unknown individuals when traditional DNA profiling is not informative. The system aids in forensic investigation by probabilistic prediction of eye, hair, skin colors as well as other phenotypic features. The Irisplex system contains a very sensitive multiplex genetic typing test that allows users to predict blue, brown and intermediate human eye color from DNA samples. To check the validity of IrisPlex system in the local Pakhtun population living in Shangla Valley of Pakistan, the current study was carried out. DNA samples as well as photographs were taken from total of 226 individuals. Exclusion and inclusion criteria were set for samples collection. The analysis showed that brown eye color individuals were greater in number than blue and intermediate eyes color individuals. Moreover, Irisplex system predicted 100% blue and brown eye color while issue in predicting in intermediate eye color. The data of the current study indicated the six Irisplex SNPs the rs16891982 and rs1800407 SNP are significant association with eye color. Conclusion: This study showed that the most prevalent human color traits among Pakhtun population of Shangla was brown eye color and the IrisPlex system accurately predicted blue and brown eye color as such as an actual eye color of the individual while intermediate was misclassified into brown eye color, so online tool of IrisPlex system needed more SNPs inclusion for the prediction of accurate intermediate eye color prediction. Therefore, the Irisplex system represents a useful tool for immediate application in accredited forensic laboratories, predicting blue and brown human eye color from DNA samples, hence, may be a useful tool in forensic investigation. [ABSTRACT FROM AUTHOR]

• Scalp and facial hair features differ within and among populations. • Genetic polymorphisms associated with hair traits may expand our knowledge on human phenotypes. • Predicting hair characteristics can improve upon the existing FDP prediction models. Microscopic traits and ultrastructure of hair such as cross-sectional shape, pigmentation, curvature, and internal structure help determine the level of variations between and across human populations. Apart from cosmetics and anthropological applications, such as determining species, somatic origin (body area), and biogeographic ancestry, the evidential value of hair has increased with rapid progression in the area of forensic DNA phenotyping (FDP). Individuals differ in the features of their scalp hair (greying, shape, colour, balding, thickness, and density) and facial hair (eyebrow thickness, monobrow, and beard thickness) features. Scalp and facial hair characteristics are genetically controlled and lead to visible inter-individual variations within and among populations of various ethnic origins. Hence, these characteristics can be exploited and made more inclusive in FDP, thereby leading to more comprehensive, accurate, and robust prediction models for forensic purposes. The present article focuses on understanding the genetics of scalp and facial hair characteristics with the goal to develop a more inclusive approach to better understand hair biology by integrating hair microscopy with genetics for genotype-phenotype correlation research. [ABSTRACT FROM AUTHOR]

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Forensic DNA phenotyping (FDP) provides the ability to predict the human external traits from unknown sample donors, directly from minute amounts of DNA found at the crime scene. We developed a MPS multiplex assay, with the aim of genotyping all 41 DNA markers included in the HIrisPlex-S system for simultaneous prediction of eye, hair and skin colours. Forensic samples such as blood, skeletal remains, touch DNA, saliva swab, artificially degraded samples together with individuals with known phenotypes and a set of 2800 M control DNA were sequenced on the Ion Torrent platform in order to evaluate the concordance testing results and the forensic suitability of the 41-plex MPS assay. The panel was evaluated by testing a different number of PCR cycles and the volume of reagents for library preparation. The study demonstrated that full and reliable profiles were obtained with 0.1–5 ng, even with high degraded DNA. The increment of the number of PCR cycles results in an improvement of correctly genotyping and phenotyping for samples with low amounts of degraded DNA but higher frequencies of artefacts were found. The high DNA degradation level did not influence the correct genotyping and phenotyping and the critical parameter affecting the result is the quantity of input DNA. Eye and hair colour was predicted in 92.60% of individuals and skin colour in 85.15% of individuals. The results suggest that this MPS assay is robust, highly sensitive and useful for human pigmentation prediction in the forensic genetic field. [ABSTRACT FROM AUTHOR]

This article is about the governance of expectations of forensic DNA phenotyping (FDP) innovations in Germany used for the prediction of human externally visible traits such as eye, hair, and skin color, as well as biological age and biogeographic ancestry. In 2019, FDP technologies were regulated under the label “extended DNA analysis”. We focus on the expectations of members of the forensic genetics’ community in Germany, in anticipation and response to those of regulators who advocated for such technologies. Confronted with regulators’ expectations of omnipotent technologies and the optimistic promise that they will enhance public security, forensic geneticists responded with attempts to adjust such expectations, specifying limits and risks, along with a particular logic sorting matters of concern. We reflect on how forensic geneticists’ govern expectations through forms of distributed anticipatory governance, delimiting their obligations, and distributing accountability across the criminal justice system.

Numerous major advances have been made in forensic genetics over the past decade. One recent field of research has been focused on the analysis of External Visible Characteristics (EVC) such as eye colour, hair colour (including hair greying), hair morphology, skin colour, freckles, facial morphology, high myopia, obesity, and adult height, with important repercussions in the forensic field. Its use could be especially useful in investigative cases where there are no potential suspects and no match between the evidence DNA sample under investigation and any genetic profiles entered into criminal databases. The present review represents the current state of knowledge of SNPs (Single Nucleotide Polymorphisms) regarding visible characteristics, including the latest research progress in identifying new genetic markers, their most promising applications in the forensic field and the implications for police investigations. The applicability of these techniques to concrete cases has stoked a heated debate in the literature on the ethical implications of using these predictive tools for visible traits.

The fast evolution of genetic sequencing techniques led to new applications in forensic genetics, one of these being the prediction of the physical appearance of a possible perpetrator from biological traces found at the crime scene. Some European countries recently changed their legislations, to permit this technique, also known as Forensic DNA Phenotyping (FDP). The phenotypical traits that may be analyzed under those revised domestic laws are usually restricted to include no information about the suspect's health. This article elaborates whether the European legal framework, as set by the Council of Europe and the European Union (EU), defines any boundaries for the analytical scope of FDP. After a brief introduction to FDP and a description of the type of data collected through predictive forensic genetics, this article discusses the relevant European legislation and the case law of the European Court of Human Rights (ECtHR) and the Court of Justice of the European Union (CJEU) around privacy, data protection and the use of genetic data. The article attempts to define possible limits for forensic genetic analysis, by eventually trying to predict the jurisprudence of the two European courts. [ABSTRACT FROM AUTHOR]

The regulatory HERC2 SNP, rs12913832, is strongly associated with blue and brown eye colour. However, eye colour in heterozygous rs12913832 individuals is observed to vary greatly. Missense mutations in OCA2, such as rs1800407 and rs74653330, are associated with lighter eye colour in some but not all heterozygous rs12913832 individuals. Determining the physical linkage of these variants might help to further explain eye colour variation. So far, experimental haplotyping of these variants has been challenging because the genomic distance between them (∼ 135 kb) exceeds the fragment lengths produced by commonly used DNA isolation kits. The aim for this study was to explore novel methods for long distance haplotyping to assess associations between OCA2-HERC2 haplotypes and eye colour. DNA was isolated from frozen blood samples collected from Norwegians that are known to be heterozygous for both HERC2 rs12913832 and OCA2 SNPs, either rs1800407 (n = 23) or rs74653330 (n = 17), using the newly commercially available Monarch® HMW (heigh molecular weight) DNA Extraction Kit (New England BioLabs inc). We successfully isolated DNA fragments up to 210 kb, which were long enough to haplotype OCA2-HERC2 loci by droplet digital PCR (ddPCR). Three haplotypes were observed in the study population: rs12913832:A-rs1800407:T in 22/23 individuals, rs12913832:A-rs1800407:C in 1/23 individuals and rs12913832:A-rs74653330:T in 16/16 individuals. As expected, all individuals with the rs12913832:A-rs74653330:T haplotype had intermediate to blue eye colour. However, the rs12913832:A-rs1800407:T haplotype was observed in both blue and brown-eyed individuals, suggesting more research is needed. [ABSTRACT FROM AUTHOR]

Human eye colour variation is strongly associated with single nucleotide polymorphisms (SNPs) in the OCA2-HERC2 locus, especially rs12913832 that is found in an enhancer element of OCA2. In a previous study we found that 43 out of 166 individuals in a Norwegian population with the brown eye colour genotype HERC2 rs12913832:AA or AG, did not have the expected brown eye colour. To investigate if duplications or deletions in the OCA2-HERC2 locus could explain the blue eye colour in these individuals, we analysed massively parallel sequencing (MPS) data for copy number variations (CNVs) in the OCA2-HERC2 region. The ∼500 kb long OCA2-HERC2 locus was sequenced in 94 individuals with the rs12913832:AG and AA genotypes. Of these, 43 were observed to have blue eye colour and 51 were observed to have brown eye colour. CNVs were analysed using R and the R-package panelcn.MOPS - CNV detection tool for targeted NGS panel data. In rs12913832:AG individuals, CNVs in 32 regions were significantly associated with blue eye colour (Benjamini-Hochberg adjusted p -value ≤ 0.05). In rs12913832:AA individuals, CNVs in 14 regions were associated with blue eye colour using raw p -values (p ≤ 0.05). The functional effects of these CNVs on OCA2 expression are yet to be investigated. However, this study suggests that CNVs in the OCA2-HERC2 locus might explain why some of the rs12913832:AG and AA individuals have unexpectedly blue eyes. [ABSTRACT FROM AUTHOR]

The prediction of externally visible characteristics (EVCs) is a commonly used practice by the forensic sciences as an important resource in the investigation of criminal cases in which the identity of perpetrators or victims is unknown or even to recognize decomposed cadavers. With this purpose, genetic markers associated with pigmentation traits have been widely studied by forensic scientists and, nowadays, it is possible to predict phenotypic characteristics such as hair, eyes and skin colour, as well as the presence of skin freckles by analysing single nucleotide polymorphisms (SNPs). In this study, we analysed the association of six SNPs located in pigmentation genes to the presence of freckles in individuals from the Brazilian population for forensic DNA phenotyping. The study was based within the context of a larger project on a population sample of 534 adult Brazilians of both sexes and different skin colours. DNA was extracted from peripheral blood and genotyped using the TaqMan® OpenArray® Real-Time PCR System (ThermoFischer Scientific) technique. Statistical analyses were carried out with the R software (version 4.0.2). As for the results obtained, three SNPs were shown to be statistically associated to the freckling, rs12203592 , rs1800404 and rs222847 , with CT, AG and AA genotypes being the main contributors, respectively. Variables such as sex of the individuals and skin colour were found to also contribute to the manifestation of this pigmentation trait. Further statistical analyses will be carried out to evaluate the possibility of using the SNPs in this study for phenotyping prediction of the Brazilian population, improving existing DNA phenotyping models in forensic sciences. [ABSTRACT FROM AUTHOR]

This article is about the governance of expectations of forensic DNA phenotyping (FDP) innovations in Germany used for the prediction of human externally visible traits such as eye, hair, and skin color, as well as biological age and biogeographic ancestry. In 2019, FDP technologies were regulated under the label "extended DNA analysis". We focus on the expectations of members of the forensic genetics' community in Germany, in anticipation and response to those of regulators who advocated for such technologies. Confronted with regulators' expectations of omnipotent technologies and the optimistic promise that they will enhance public security, forensic geneticists responded with attempts to adjust such expectations, specifying limits and risks, along with a particular logic sorting matters of concern. We reflect on how forensic geneticists' govern expectations through forms of distributed anticipatory governance, delimiting their obligations, and distributing accountability across the criminal justice system. [ABSTRACT FROM AUTHOR]

Forensic DNA Phenotyping (FDP) encompasses an emerging set of technologies aimed at predicting physical characteristics of unknown suspects from crime scene DNA traces. In its application FDP involves a variety of settings: research laboratories where FDP tests are developed, forensic laboratories where FDP technologies are used to analyze crime scene DNA traces, and finally the criminal investigation, where results of tests are applied towards finding suspects. In this paper I show that the practices in each of these settings work by a different set of concerns, which I articulate by adopting the notion of “logics” as developed by Annemarie Mol. I ethnographically trace FDP from research lab to investigation, identifying three different logics along the way: those of accuracy, commonality, and valuing respectively. Taken together, I show that these practices do not linearly accumulate but form a heterogeneous assemblage, adding nuance to discussions surrounding FDP.

In the last few years, predicting externally visible characteristics (EVCs) by adopting informative DNA molecular markers has become a method in forensic genetics that has increased its value, giving rise to an interesting field called “Forensic DNA Phenotyping” (FDP). The most meaningful forensic applications of EVCs prediction are those in which, having only a DNA sample isolated from highly decomposed remains, it is essential to reconstruct the physical appearance of a person. Through this approach, we set out to evaluate 20 skeletal remains of Italian provenance in order to associate them with as many cases of missing persons as possible. To achieve the intended goal, in this work we applied the HIrisPlex-S multiplex system through the conventional short tandem repeats (STR) method to confirm the expected identity of subjects by evaluating phenotypic features. To investigate the reliability and accuracy of the DNA-based EVCs prediction, pictures of the cases were compared as they were available to researchers. Results showed an overall prediction accuracy greater than 90% for all three phenotypic features—iris, hair, and skin colour—at a probability threshold of 0.7. The experimental analysis showed inconclusive results in only two cases; this is probably due to the characteristics of subjects who had an intermediate eye and hair colour, for which the DNA-based system needs to improve the prediction accuracy.

Human pigmentation is a complex trait, probably involving more than 100 genes. Predicting phenotypes using SNPs present in those genes is important for forensic purpose. For this, the HIrisPlex tool was developed for eye and hair color prediction, with both models achieving high accuracy among Europeans. Its evaluation in admixed populations is important, since they present a higher frequency of intermediate phenotypes, and HIrisPlex has demonstrated limitations in such predictions; therefore, the performance of this tool may be impaired in such populations. Here, we evaluate the set of 24 markers from the HIrisPlex system in 328 individuals from Ribeirão Preto (SP) region, predicting eye and hair color and comparing the predictions with their real phenotypes. We used the HaloPlex Target Enrichment System and MiSeq Personal Sequencer platform for massively parallel sequencing. The prediction of eye and hair color was accomplished by the HIrisPlex online tool, using the default prediction settings. Ancestry was estimated using the SNPforID 34-plex to observe if and how an individual's ancestry background would affect predictions in this admixed sample. Our sample presented major European ancestry (70.5%), followed by African (21.1%) and Native American/East Asian (8.4%). HIrisPlex presented an overall sensitivity of 0.691 for hair color prediction, with sensitivities ranging from 0.547 to 0.782. The lowest sensitivity was observed for individuals with black hair, who present a reduced European contribution (48.4%). For eye color prediction, the overall sensitivity was 0.741, with sensitivities higher than 0.85 for blue and brown eyes, although it failed in predicting intermediate eye color. Such struggle in predicting this phenotype category is in accordance with what has been seen in previous studies involving HIrisPlex. Individuals with brown eye color are more admixed, with European ancestry decreasing to 62.6%; notwithstanding that, sensitivity for brown eyes was almost 100%. Overall sensitivity increases to 0.791 when a 0.7 threshold is set, though 12.5% of the individuals become undefined. When combining eye and hair prediction, hit rates between 51.3 and 68.9% were achieved. Despite the difficulties with intermediate phenotypes, we have shown that HIrisPlex results can be very helpful when interpreted with caution. [ABSTRACT FROM AUTHOR]

Forensic DNA phenotyping (FDP) is an emerging technology that seeks to make probabilistic inferences regarding a person’s observable characteristics (“phenotype”) from DNA. The aim is to aid criminal investigations by helping to identify unknown suspected perpetrators, or to help with non-criminal missing persons cases. Here we provide results from the analysis of 36 interviews with those who have a professional stake in FDP, including forensic scientists, police officers, lawyers, government agencies and social scientists. Located in eight EU countries, these individuals were asked for their views on the benefits and problems associated with the prospective use of FDP. While all interviewees distinguished between those phenotypic tests perceived to either raise ethical, social or political concerns from those tests viewed as less ethically and socially problematic, there was wide variation regarding the criteria they used to make this distinction. We discuss the implications of this in terms of responsible technology development.

Forensic DNA phenotyping is a genetic technology that might be used in criminal investigations. Based on DNA samples of the human body found at crime scenes, it allows to infer externally visible characteristics (such as eye, hair and skin colour) and continental-based biogeographical ancestry. By indicating the probable visible appearance of a criminal suspect, forensic DNA phenotyping allows to narrow down the focus of a criminal investigation. In this article, drawing on interviews with forensic geneticists, we explore how their narratives translate contemporary focus on criminal molecularized bodies. We propose the concept of (de)materialization to approach three aspects of the forensic geneticists' views. The first regards considering bodies as mutable entities. The second relates to socially contingent meanings attributed to bodies. The third regards to controversies surrounding data reliability. By reflecting upon the (de)materialization of criminal bodies, forensic geneticists juxtapose the defence and unsettling of forensic DNA phenotyping claims. [ABSTRACT FROM AUTHOR]

Forensic DNA Phenotyping (FDP) is an established but evolving field of DNA testing. It provides intelligence regarding the appearance (externally visible characteristics), biogeographical ancestry and age of an unknown donor and, although not necessarily a requirement for its casework application, has been previously used as a method of last resort in New South Wales (NSW) Police Force investigations. FDP can further assist law enforcement agencies by re-prioritising an existing pool of suspects or generating a new pool of suspects. In recent years, this capability has become ubiquitous with a wide range of service providers offering their expertise to law enforcement and the public. With the increase in the number of providers offering FDP and its potential to direct and target law enforcement resources, a thorough assessment of the applicability of these services was undertaken. Six service providers of FDP were assessed for suitability for NSW Police Force casework based on prediction accuracy, clarity of reporting, limitations of testing, cost and turnaround times. From these assessment criteria, a service provider for the prediction of biogeographical ancestry, hair and eye colour was deemed suitable for use in NSW Police Force casework. Importantly, the study highlighted the need for standardisation of terminology and reporting in this evolving field, and the requirement for interpretation by biologists with specialist expertise to translate the scientific data to intelligence for police investigators.

Forensic DNA Phenotyping (FDP) is an established but evolving field of DNA testing. It provides intelligence regarding the appearance (externally visible characteristics), biogeographical ancestry and age of an unknown donor and, although not necessarily a requirement for its casework application, has been previously used as a method of last resort in New South Wales (NSW) Police Force investigations. FDP can further assist law enforcement agencies by re-prioritising an existing pool of suspects or generating a new pool of suspects. In recent years, this capability has become ubiquitous with a wide range of service providers offering their expertise to law enforcement and the public. With the increase in the number of providers offering FDP and its potential to direct and target law enforcement resources, a thorough assessment of the applicability of these services was undertaken. Six service providers of FDP were assessed for suitability for NSW Police Force casework based on prediction accuracy, clarity of reporting, limitations of testing, cost and turnaround times. From these assessment criteria, a service provider for the prediction of biogeographical ancestry, hair and eye colour was deemed suitable for use in NSW Police Force casework. Importantly, the study highlighted the need for standardisation of terminology and reporting in this evolving field, and the requirement for interpretation by biologists with specialist expertise to translate the scientific data to intelligence for police investigators. [ABSTRACT FROM AUTHOR]

Forensic DNA Phenotyping (FDP) encompasses an emerging set of technologies aimed at predicting physical characteristics of unknown suspects from crime scene DNA traces. In its application FDP involves a variety of settings: research laboratories where FDP tests are developed, forensic laboratories where FDP technologies are used to analyze crime scene DNA traces, and finally the criminal investigation, where results of tests are applied towards finding suspects. In this paper I show that the practices in each of these settings work by a different set of concerns, which I articulate by adopting the notion of "logics" as developed by Annemarie Mol. I ethnographically trace FDP from research lab to investigation, identifying three different logics along the way: those of accuracy, commonality, and valuing respectively. Taken together, I show that these practices do not linearly accumulate but form a heterogeneous assemblage, adding nuance to discussions surrounding FDP. [ABSTRACT FROM AUTHOR]

Forensic geneticists have attempted to make the case for continued investment in forensic genetics research, despite its seemingly consolidated evidentiary role in criminal justice, by shifting the focus to technologies that can provide intelligence. Forensic DNA phenotyping (FDP) is one such emerging set of techniques, promising to infer external appearance and ancestry of an unknown person. On this example, I consider the repertoire of anticipatory practices deployed by scientists, expanding the concept to not only focus on promissory but also include epistemic and operational aspects of anticipatory work in science. I explore these practices further as part of anticipatory self-governance efforts, attending to the European forensic genetics community and its construction of FDP as a reliable and legitimate technology field for use in delivering public goods around security and justice. In this context, I consider three types of ordering devices that translate anticipatory practices into anticipatory self-governance.

Although many genes have been shown to be associated with human pigmentary traits and forensic prediction assays exist (e.g. HIrisPlex-S), the genetic knowledge about skin colour remains incomplete. The highly admixed Brazilian population is an interesting study population for investigation of the complex genotype-phenotype architecture of human skin colour because of its large variation. Here, we compared variants in 22 pigmentary genes with quantitative skin pigmentation levels on the buttock, arm, and forehead areas of 266 genetically admixed Brazilian individuals. The genetic ancestry of each individual was estimated by typing 46 AIM-InDels. The mean proportion of genetic ancestry was 68.8% European, 20.8% Sub-Saharan African, and 10.4% Native American. A high correlation (adjusted R2 = 0.65, p < 0.05) was observed between nine SNPs and quantitative skin pigmentation using multiple linear regression analysis. The correlations were notably smaller between skin pigmentation and biogeographic ancestry (adjusted R2 = 0.45, p < 0.05), or markers in the leading forensic skin colour prediction system, the HIrisPlex-S (adjusted R2 = 0.54, p < 0.05). Four of the nine SNPs, OCA2 rs1448484 (rank 2), APBA2 rs4424881 (rank 4), MFSD12 rs10424065 (rank 8), and TYRP1 1408799 (rank 9) were not investigated as part of the HIrisPlex-S selection process, and therefore not included in the HIrisPlex-S model. Our results indicate that these SNPs account for a substantial part of the skin colour variation in individuals of admixed ancestry. Hence, we suggest that these SNPs are considered when developing future skin colour prediction models. [ABSTRACT FROM AUTHOR]

Forensic DNA phenotyping (FDP) encompasses a set of technologies geared towards inferring externally visible characteristics from DNA traces found at crime scenes. As such, they are used to generate facial renderings of unknown suspects. First, through the configuration of molecularly inscribed parts, pigmentary traits are assembled into a probabilistic rendition of the face; second, facial features are landscaped from DNA to produce a metrically rendered face; third, by geographically ordering DNA, an unknown suspect is attributed a particular genetic ancestry as to give him a face. We ethnographically examine these FDP practices within and beyond the laboratory to demonstrate how the promise of individuality—namely the face of the suspect—comes with the production of collectives. And it is precisely these collectives that are a matter of concern in the context of crime, as they rapidly become racialized. We show that each of these FDP practices folds in disparate histories—variously implicating the individual and the collective—while giving rise to different versions of race. The "race sorting logic" (Fullwiley in Br J Sociol 66(1):36–45, 2015) displays the tenacity of race in genetics research and its practical applications. [ABSTRACT FROM AUTHOR]

DNA profiling and databasing technologies have become integral to criminal justice practices in many countries, and their reliability is now rarely challenged. However, a new set of forensic genetics technologies has emerged, one of which is forensic DNA phenotyping (FDP). FDP aims to infer a person's visible traits from DNA, and to predict biogeographical ancestry, in order to provide intelligence for difficult investigations. Debates around FDP have been largely academic and legal, but in some countries they have become of public interest. Here, many scientists and practitioners tend to avoid publically articulating disagreement about the limitations of such technologies. This paper attends to a rare public disagreement about technoscientific practices in the wider forensic genetics community about a commercial forensic service called Snapshot™ which utilises FDP. Its analysis of scientists' ethical reasoning about the development and use of this set of technologies contributes to understanding the political economy of forensic genetics, at the intersection of scientific ethics, forensic practice, and commercial resources that make visible and enable further scientific research in the field. More widely, this paper proposes that attending to public ethical debates such as this offers much-needed insight into the various intersecting stakes that co-constitute emerging technologies. [ABSTRACT FROM AUTHOR]

RNA has gained a substantial amount of attention within the forensic field over the last decade. There is evidence that RNAs are differentially expressed with biological age. Since RNA can be co-extracted with DNA from the same piece of evidence, RNA-based analysis appears as a promising molecular alternative for predicting the biological age and hence inferring the chronological age of a person. Using RNA-Seq data we searched for markers in blood potentially associated with age. We used our own RNA-Seq data from dried blood stains as well as publicly available RNA-Seq data from whole blood, and compared two different approaches to select candidate markers. The first approach focused on individual gene analysis with DESeq2 to select the genes most correlated with age, while the second approach employed lasso regression to select a set of genes for optimal prediction of age. We present two lists with 270 candidate markers, one for each approach. • In RNA-Seq data we search for markers associated with chronological age of an individual. • Samples include dried blood stains and whole blood from two data sets. • We compare two methods for marker selection: DESeq2 and lasso. • Two gene lists including 508 candidate markers are presented. • The data reveal large batch effects that complicate the search. [ABSTRACT FROM AUTHOR]

Accurate genomic profiling for adult height is of high practical relevance in forensics genetics. Adult height is a classical reference trait in the field of human complex trait genetics characterized by highly polygenic nature and relatively high heritability. A meta-analysis of genome-wide association studies by the Genetic Investigation of Anthropocentric Traits (GIANT) consortium has identified 697 DNA variants associated with adult height in Europeans; however, whether these variants will still be informative in non-Europeans is still in question. The present study investigated the predictive power of these 697 height-associated SNPs in 687 Uyghurs of European-Asian admixed origin. Among all GIANT SNPs, 11% showed nominally significant association (6.78 × 10−4 < p < 0.05) with adult height in the Uyghur population and among the significant SNPs 77% of allele effects were in the same direction as those in Europeans reported in the GIANT study. Fitting linear and logistic models using a polygenic score consisting of all GIANT SNPs resulted in an 80–20 cross-validated mean R2 of 10.08% (95% CI 3.16–18.40%) for quantitative height prediction and a mean AUC value of 0.65 (95% CI 0.57–0.72%) for qualitative "above average" prediction. Fine-tuning the SNP set using their association p values considerably improved the prediction results (number of SNPs = 62, R2 = 15.59%, 95% CI 6.80–25.71%; AUC = 0.70, 95% CI 62–0.77) in the Uyghurs. Overall, our findings demonstrate substantial differences between the European and Asian populations in the genetics of adult height, emphasizing the importance of population heterogeneity underlying the genetic architecture of adult height. [ABSTRACT FROM AUTHOR]

• Ephelides are hyperpigmented spots on skin observed in Europeans and Asians. • Pigmentation genes explain significant portion of freckles heritability. • Binomial and multinomial models for prediction of freckles are developed. • Non- medium- and heavy-freckled people predicted with AUC = 0.75, 0.66 and 0.79. • Several epistatic effects and sex important for freckles prediction. Freckles or ephelides are hyperpigmented spots observed on skin surface mainly in European and Asian populations. Easy recognition and external visibility make prediction of ephelides, the potentially useful target in the field of forensic DNA phenotyping. Prediction of freckles would be a step forward in sketching the physical appearance of unknown perpetrators or decomposed cadavers for the forensic DNA intelligence purposes. Freckles are especially common in people with pale skin and red hair and therefore it is expected that predisposition to freckles may partially share the genetic background with other pigmentation traits. The first proposed freckle prediction model was developed based on investigation that involved variation of MC1R and 8 SNPs from 7 genes in a Spanish cohort [ 19 ]. In this study we examined 113 DNA variants from 46 genes previously associated with human pigmentation traits and assessed their impact on freckles presence in a group of 960 individuals from Poland. Nineteen DNA variants revealed associations with the freckle phenotype and the study also revealed that females have ∼1.8 higher odds of freckles presence comparing to males (p -value = 9.5 × 10−5). Two alternative prediction models were developed using regression methods. A simplified binomial 12-variable model predicts the presence of ephelides with cross-validated AUC = 0.752. A multinomial 14-variable model predicts one of three categories – non-freckled, medium freckled and heavily freckled. The two extreme categories, non-freckled and heavily freckled were predicted with moderately high accuracy of cross-validated AUC = 0.754 and 0.792, respectively. Prediction accuracy of the intermediate category was lower, AUC = 0.657. The study presents novel DNA models for prediction of freckles that can be used in forensic investigations and emphasizes significance of pigmentation genes and sex in predictive DNA analysis of freckles. [ABSTRACT FROM AUTHOR]

• Current forensic DNA phenotyping focuses on pigmentation traits. • Update on DNA predictability of tall stature in Europeans is presented. • 689 SNPs provided AUC of 0.79, while a subset of 412 SNPs achieved 0.76. • New models improved prediction accuracy compared to previous ones. Predicting adult height from DNA has important implications in forensic DNA phenotyping. In 2014, we introduced a prediction model consisting of 180 height-associated SNPs based on data from 10,361 Northwestern Europeans enriched with tall individuals (770 > 1.88 standard deviation), which yielded a mid-ranged accuracy (AUC = 0.75 for binary prediction of tall stature and R2 = 0.12 for quantitative prediction of adult height). Here, we provide an update on DNA-based height predictability considering an enlarged list of subsequently-published height-associated SNPs using data from the same set of 10,361 Europeans. A prediction model based on the full set of 689 SNPs showed an improved accuracy relative to previous models for both tall stature (AUC = 0.79) and quantitative height (R2 = 0.21). A feature selection analysis revealed a subset of 412 most informative SNPs while the corresponding prediction model retained most of the accuracy (AUC = 0.76 and R2 = 0.19) achieved with the full model. Over all, our study empirically exemplifies that the accuracy for predicting human appearance phenotypes with very complex underlying genetic architectures, such as adult height, can be improved by increasing the number of phenotype-associated DNA variants. Our work also demonstrates that a careful sub-selection allows for a considerable reduction of the number of DNA predictors that achieve similar prediction accuracy as provided by the full set. This is forensically relevant due to restrictions in the number of SNPs simultaneously analyzable with forensically suitable DNA technologies in the current days of targeted massively parallel sequencing in forensic genetics. [ABSTRACT FROM AUTHOR]

Forensic DNA phenotyping (FDP) is an emerging technology that seeks to make probabilistic inferences regarding a person's observable characteristics ("phenotype") from DNA. The aim is to aid criminal investigations by helping to identify unknown suspected perpetrators, or to help with non-criminal missing persons cases. Here we provide results from the analysis of 36 interviews with those who have a professional stake in FDP, including forensic scientists, police officers, lawyers, government agencies and social scientists. Located in eight EU countries, these individuals were asked for their views on the benefits and problems associated with the prospective use of FDP. While all interviewees distinguished between those phenotypic tests perceived to either raise ethical, social or political concerns from those tests viewed as less ethically and socially problematic, there was wide variation regarding the criteria they used to make this distinction. We discuss the implications of this in terms of responsible technology development. [ABSTRACT FROM AUTHOR]

Highlights • Comparison of four eye color prediction models in an Italian sample showed strengths and weaknesses for each of them. • The IrisPlex, Ruiz and Allwood models provided 60–69% of correct predictions –using the recommended thresholds. • The IrisPlex system showed the lowest frequency of errors, followed by the Allwood and the Ruiz models. • The major issues were related to the high prevalence of intermediate eye colors in the Italian sample. • Model adjusting suggests the need for a further genetic and phenotypic characterization of intermediate colors. Abstract Forensic DNA phenotyping (FDP) has recently provided important advancements in forensic investigations, by predicting the physical appearance of a subject from a biological sample, using SNP markers. The majority of operable prediction models have been developed for iris color; however, replication studies to understand their applicability on a worldwide scale are still limited for many of them. In this work, 4 models for eye color prediction (IrisPlex, Ruiz, Allwood and Hart models) were systematically evaluated in a sample of 296 subjects of Italian origin. Genotypes were determined by a custom NGS-based panel targeting all the predictive SNPs included in the 4 tested models. Overall, 60–69% of the Italian sample could be correctly predicted with the IrisPlex, Ruiz and Allwood models, applying the recommended threshold. The IrisPlex model showed the lowest frequency of errors (17%), but also the highest number of inconclusive results (18%). In the absence of the threshold, the highest proportion of correct predictions was again obtained with the IrisPlex model (76%), followed by the Allwood (73%) and the Ruiz (65%) models. Lastly, the Hart predictive algorithm had the lowest error rate (2%), but the majority of predictions (87%) were restricted to the less informative categories of "not-blue" and "not-brown", and correct color predictions were obtained only for 11% of the sample. As observed in previous studies, the majority of incorrect and undefined predictions were ascribable to the intermediate category, which represented 25% of the Italian sample. An adjustment of the IrisPlex (multinomial logistic regression) and Ruiz models (Snipper Bayesian classifier) with Italian allele frequencies gave only minor improvements in predicting intermediate eye color and no remarkable overall changes in performance. This suggests an incomplete knowledge underlying the intermediate colors. Considering the impact of this phenotype in the Italian sample as well as in other admixed populations, future improvements of eye color prediction methods should include a better genetic and phenotypic characterization of this category. [ABSTRACT FROM AUTHOR]

Analysis of information about physical characteristics, biogeographical ancestry or common genetic ancestors from crime scene DNA is a technique aimed at informing an intelligence process, rather than obtaining evidence for a criminal trial. This intelligence supports tactical or operational decision-making. Like other forms of intelligence there is a risk for it to be misconstrued or for its investigative value to be misunderstood. The potential for intelligence derived from DNA to divert investigative resources or result in unnecessary intrusions into individual privacy can be mitigated by applying an appropriate intelligence doctrine. Establishing an appropriate framework could reduce the need for government regulation of these emerging capabilities in the context of law enforcement use. [ABSTRACT FROM AUTHOR]

Over a decade after the publication of the first forensic DNA phenotyping (FDP) studies, DNA-based appearance predictions are now becoming a reality in routine crime scene investigations. The significant number of publications dedicated to the subject of FDP clearly demonstrates a sustained interest and a strong need for further method development. However, the implementation of FDP in routine work still encounters obstacles, and one of these challenges is making phenotype predictions from DNA mixtures. In this study, we examined single-cell sequencing as a potential tool to enable reliable phenotyping of contributors within mixtures. Two mock mixtures, each containing two contributors with similar and different physical appearances, were analyzed using two different workflows. In the first workflow, the mixtures were sequenced using the Ion AmpliSeq™ PhenoTrivium Panel, which includes 41 HIrisPlex-S (HPS) markers. Subsequently, the genotypes were analyzed using the HPS Deconvolution Tool to predict the phenotypes of both contributors. The second workflow involved the introduction of single-cell separation and collection using the DEPArray™ PLUS System. Two different PhenoTrivium amplification protocols were tested, and the phenotype predictions from single cells were compared with the results obtained using the HPS Tool. Our results suggest that the approach presented here allows for the obtainment of nearly complete HIrisPlex-S profiles with accurate genotypes and reliable phenotype predictions from single cells. This method proves successful in deconvoluting mixtures submitted to forensic DNA phenotyping. • Single cell analysis as a novel approach of deconvoluting two-person mixture submitted to forensic DNA phenotyping. • Phenotype predictions of single cells compared with analysis with the HIrisPlex-S Deconvolution Tool. • Reliable phenotype predictions of contributors with similar and with different appearance obtained from pure single cells. [ABSTRACT FROM AUTHOR]

Predicting the outward appearance of dogs via their DNA, also known as Canine DNA Phenotyping, is a young, emerging field of research in forensic genetics. The few previous studies published in this respect were restricted to the consecutive analysis of single DNA markers, a process that is time- and sample-consuming and therefore not a viable option for limited forensic specimens. Here, we report on the development and evaluation of a Massively Parallel Sequencing (MPS) based molecular genetic assay, the LASSIE MPS Panel. This panel aims to predict externally visible as well as skeletal traits, which include coat color, coat pattern, coat structure, tail morphology, skull shape, ear shape, eye color and body size from DNA using 44 genetic markers in a single molecular genetic assay. A biostatistical naïve Bayes classification approach was applied to identify the most informative marker combinations for predicting phenotypes. Overall, the predictive performance was characterized by a very high classification success for some of the trait categories, and high to moderate success for others. The performance of the developed predictive framework was further evaluated using blind samples from three randomly selected dog individuals, whose appearance was well predicted. [Display omitted] • First MPS-based molecular genetic assay to predict the canine outward appearance for forensic purposes. • Combination of 44 genetic markers describing eight trait categories to draw a comprehensive picture of the canine phenotype. • Application of naïve Bayes likelihood-based approaches for selecting best genotype-phenotype relationships. [ABSTRACT FROM AUTHOR]

Pigment-related genetic variants point out their role in personal identification as they can be considered predictors suitable for Forensic DNA Phenotyping (FDP) and mounting evidence suggest also their bio-geographic inferential power for gaining information about the individual geographical origin. As they could be regarded as AIMs (Ancestry Informative Markers) they are powerful tools for inferring genetic composition of admixed population. Despite the huge range of skin tones across our species, little is known about genetic basis in global population and particularly our knowledge is less precise for those showing a complex historical and genomic background. The current research aims to explore the allelic status in several SNPs mapped in selected genes known to be involved in skin pigmentation: OCA2, HERC2, SLC45A2, SLC24A5 and two intergenic regions between BEND7/PRPF18 and EIF2S2/ASIP. The genetic evaluation has been performed on selected African and African derived populations: Fon, Dendi, Bariba and Berba communities from Benin, and Afroecuadorians. Data integration has been made up merging genotypic results with available information from major biological data warehouse as Phase 3–1000 Genomes Project or International HapMap Project in order to obtain a selected populations panel useful for their use as inferential model training set to test the likelihood of correct assignment to geographically differentiated human groups. The proposed variants panel seems to properly interpret the geographic variation and some new interesting evidence could be pointed out in African mixed populations, that seem to be differentially distributed if the total panel is considered. Understanding human pigmentation architecture can provide fundamental insight into genetic interaction of complex traits and the relationship between environmental adaptation and population history. In addition, the results support the use of phenotypic inference along with bio-geographical ancestry information as valid auxiliary tools in personal identification. [ABSTRACT FROM AUTHOR]