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      An overview of the latest developments in facial imaging

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          Abstract

          Facial imaging is a term used to describe methods that use facial images to assist or facilitate human identification. This pertains to two craniofacial identification procedures that use skulls and faces—facial approximation and photographic superimposition—as well as face-only methods for age progression/regression, the construction of facial graphics from eyewitness memory (including composites and artistic sketches), facial depiction, face mapping and newly emerging methods of molecular photofitting. Given the breadth of these facial imaging techniques, it is not surprising that a broad array of subject-matter experts participate in and/or contribute to the formulation and implementation of these methods (including forensic odontologists, forensic artists, police officers, electrical engineers, anatomists, geneticists, medical image specialists, psychologists, computer graphic programmers and software developers). As they are concerned with the physical characteristics of humans, each of these facial imaging areas also falls in the domain of physical anthropology, although not all of them have been traditionally regarded as such. This too offers useful opportunities to adapt established methods in one domain to others more traditionally held to be disciplines within physical anthropology (e.g. facial approximation, craniofacial superimposition and face photo-comparison). It is important to note that most facial imaging methods are not currently used for identification but serve to assist authorities in narrowing or directing investigations such that other, more potent, methods of identification can be used (e.g. DNA). Few, if any, facial imaging approaches can be considered honed end-stage scientific methods, with major opportunities for physical anthropologists to make meaningful contributions. Some facial imaging methods have considerably stronger scientific underpinnings than others (e.g. facial approximation versus face mapping), some currently lie entirely within the artistic sphere (facial depiction), and yet others are so aspirational that realistic capacity to obtain their aims has strongly been questioned despite highly advanced technical approaches (molecular photofitting). All this makes for a broad-ranging, dynamic and energetic field that is in a constant state of flux. This manuscript provides a theoretical snapshot of the purposes of these methods, the state of science as it pertains to them, and their latest research developments.

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          The HIrisPlex system for simultaneous prediction of hair and eye colour from DNA.

          Recently, the field of predicting phenotypes of externally visible characteristics (EVCs) from DNA genotypes with the final aim of concentrating police investigations to find persons completely unknown to investigating authorities, also referred to as Forensic DNA Phenotyping (FDP), has started to become established in forensic biology. We previously developed and forensically validated the IrisPlex system for accurate prediction of blue and brown eye colour from DNA, and recently showed that all major hair colour categories are predictable from carefully selected DNA markers. Here, we introduce the newly developed HIrisPlex system, which is capable of simultaneously predicting both hair and eye colour from DNA. HIrisPlex consists of a single multiplex assay targeting 24 eye and hair colour predictive DNA variants including all 6 IrisPlex SNPs, as well as two prediction models, a newly developed model for hair colour categories and shade, and the previously developed IrisPlex model for eye colour. The HIrisPlex assay was designed to cope with low amounts of template DNA, as well as degraded DNA, and preliminary sensitivity testing revealed full DNA profiles down to 63pg input DNA. The power of the HIrisPlex system to predict hair colour was assessed in 1551 individuals from three different parts of Europe showing different hair colour frequencies. Using a 20% subset of individuals, while 80% were used for model building, the individual-based prediction accuracies employing a prediction-guided approach were 69.5% for blond, 78.5% for brown, 80% for red and 87.5% for black hair colour on average. Results from HIrisPlex analysis on worldwide DNA samples imply that HIrisPlex hair colour prediction is reliable independent of bio-geographic ancestry (similar to previous IrisPlex findings for eye colour). We furthermore demonstrate that it is possible to infer with a prediction accuracy of >86% if a brown-eyed, black-haired individual is of non-European (excluding regions nearby Europe) versus European (including nearby regions) bio-geographic origin solely from the strength of HIrisPlex eye and hair colour probabilities, which can provide extra intelligence for future forensic applications. The HIrisPlex system introduced here, including a single multiplex test assay, an interactive tool and prediction guide, and recommendations for reporting final outcomes, represents the first tool for simultaneously establishing categorical eye and hair colour of a person from DNA. The practical forensic application of the HIrisPlex system is expected to benefit cases where other avenues of investigation, including STR profiling, provide no leads on who the unknown crime scene sample donor or the unknown missing person might be. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.
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            Genome-wide mapping of global-to-local genetic effects on human facial shape

            Genome-wide association scans of complex multipartite traits like the human face typically use preselected phenotypic measures. Here we report a data-driven approach to phenotyping facial shape at multiple levels of organization, allowing for an open-ended description of facial variation, while preserving statistical power. In a sample of 2,329 persons of European ancestry we identified 38 loci, 15 of which replicated in an independent European sample (n=1,719). Four loci were completely novel. For the others, additional support (n=9) or pleiotropic effects (n=2) were found in the literature, but the results reported here were further refined. All 15 replicated loci revealed distinctive patterns of global-to-local genetic effects on facial shape and showed enrichment for active chromatin elements in human cranial neural crest cells, suggesting an early developmental origin of the facial variation captured. These results have implications for studies of facial genetics and other complex morphological traits.
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              Fine tuning of craniofacial morphology by distant-acting enhancers.

              The shape of the human face and skull is largely genetically determined. However, the genomic basis of craniofacial morphology is incompletely understood and hypothesized to involve protein-coding genes, as well as gene regulatory sequences. We used a combination of epigenomic profiling, in vivo characterization of candidate enhancer sequences in transgenic mice, and targeted deletion experiments to examine the role of distant-acting enhancers in craniofacial development. We identified complex regulatory landscapes consisting of enhancers that drive spatially complex developmental expression patterns. Analysis of mouse lines in which individual craniofacial enhancers had been deleted revealed significant alterations of craniofacial shape, demonstrating the functional importance of enhancers in defining face and skull morphology. These results demonstrate that enhancers are involved in craniofacial development and suggest that enhancer sequence variation contributes to the diversity of human facial morphology.
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                Author and article information

                Journal
                Forensic Sci Res
                Forensic Sci Res
                TFSR
                tfsr20
                Forensic Sciences Research
                Taylor & Francis
                2096-1790
                2471-1411
                March 2019
                29 October 2018
                : 4
                : 1 , Special Issue on Forensic Anthropology, Part II: Estimation of Age and Identification; Guest Editor: Douglas H. Ubelaker
                : 10-28
                Affiliations
                [a ]Laboratory for Human Craniofacial and Skeletal Identification (HuCS-ID Lab), School of Biomedical Sciences, The University of Queensland , St Lucia, Australia;
                [b ]Unite Mixte de Recherche (UMR) 5199 De la Préhistoire à l'Actuel: Culture, Environnement et Anthropologie (PACEA), Ministère de la Culture et de la Communication (MCC), Centre National de la Recherche Scientifique (CNRS), Université de Bordeaux , Pessac, France;
                [c ]Department of Electrical Engineering, Department of Electrical Engineering (ESAT)/Processing of Speech and Images (PSI), KU Leuven , Leuven, Belgium;
                [d ]Medical Imaging Research Center (MIRC), Universitair Ziekenhuis , Leuven, Belgium
                Author notes
                CONTACT Carl N. Stephan c.stephan@ 123456uq.edu.au
                Author information
                http://orcid.org/0000-0001-8696-3809
                http://orcid.org/0000-0001-6914-6313
                http://orcid.org/0000-0001-9489-9819
                Article
                1519892
                10.1080/20961790.2018.1519892
                6427692
                30915414
                d23d9a1a-48cc-43dc-8cc2-24cf6b86781f
                © 2018 The Author(s). Published by Taylor & Francis Group on behalf of the Academy of Forensic Science

                This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

                History
                : 05 July 2018
                : 02 September 2018
                : 03 September 2018
                Page count
                Pages: 36, Words: 15344
                Funding
                Funded by: NEC Australia Advanced Recognition Systems Experience in Torquay
                NEC Australia funded the first author to attend the NEC Australia Advanced Recognition Systems Experience in Torquay, Australia, from October 24 to 25 2017
                Categories
                Reviews

                forensic anthropology,craniofacial identification,facial approximation,photographic superimposition,facial depiction,age progression,facial composites,molecular photofitting

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