Dataset Information

Computer face-matching technology using two-dimensional photographs accurately matches the facial gestalt of unrelated individuals with the same syndromic form of intellectual disability.

ABSTRACT: BACKGROUND:Massively parallel genetic sequencing allows rapid testing of known intellectual disability (ID) genes. However, the discovery of novel syndromic ID genes requires molecular confirmation in at least a second or a cluster of individuals with an overlapping phenotype or similar facial gestalt. Using computer face-matching technology we report an automated approach to matching the faces of non-identical individuals with the same genetic syndrome within a database of 3681 images [1600 images of one of 10 genetic syndrome subgroups together with 2081 control images]. Using the leave-one-out method, two research questions were specified: 1) Using two-dimensional (2D) photographs of individuals with one of 10 genetic syndromes within a database of images, did the technology correctly identify more than expected by chance: i) a top match? ii) at least one match within the top five matches? or iii) at least one in the top 10 with an individual from the same syndrome subgroup? 2) Was there concordance between correct technology-based matches and whether two out of three clinical geneticists would have considered the diagnosis based on the image alone? RESULTS:The computer face-matching technology correctly identifies a top match, at least one correct match in the top five and at least one in the top 10 more than expected by chance (P?

SUBMITTER: Dudding-Byth T

PROVIDER: S-EPMC5735520 | biostudies-literature | 2017 Dec

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Computer face-matching technology using two-dimensional photographs accurately matches the facial gestalt of unrelated individuals with the same syndromic form of intellectual disability.

Dudding-Byth Tracy T Baxter Anne A Holliday Elizabeth G EG Hackett Anna A O'Donnell Sheridan S White Susan M SM Attia John J Brunner Han H de Vries Bert B Koolen David D Kleefstra Tjitske T Ratwatte Seshika S Riveros Carlos C Brain Steve S Lovell Brian C BC

BMC biotechnology 20171219 1

<h4>Background</h4>Massively parallel genetic sequencing allows rapid testing of known intellectual disability (ID) genes. However, the discovery of novel syndromic ID genes requires molecular confirmation in at least a second or a cluster of individuals with an overlapping phenotype or similar facial gestalt. Using computer face-matching technology we report an automated approach to matching the faces of non-identical individuals with the same genetic syndrome within a database of 3681 images [ ...[more]

PMID: 29258477

Similar Datasets

Project description:Cargo transport along the cytoplasmic microtubular network is essential for neuronal function, and cytoplasmic dynein-1 is an established molecular motor that is critical for neurogenesis and homeostasis. We performed whole-exome sequencing, homozygosity mapping, and chromosomal microarray studies in five individuals from three independent pedigrees and identified likely-pathogenic variants in DYNC1I2 (Dynein Cytoplasmic 1 Intermediate Chain 2), encoding a component of the cytoplasmic dynein 1 complex. In a consanguineous Pakistani family with three affected individuals presenting with microcephaly, severe intellectual disability, simplification of cerebral gyration, corpus callosum hypoplasia, and dysmorphic facial features, we identified a homozygous splice donor site variant (GenBank: NM_001378.2:c.607+1G>A). We report two additional individuals who have similar neurodevelopmental deficits and craniofacial features and harbor deleterious variants; one individual bears a c.740A>G (p.Tyr247Cys) change in trans with a 374 kb deletion encompassing DYNC1I2, and an unrelated individual harbors the compound-heterozygous variants c.868C>T (p.Gln290∗) and c.740A>G (p.Tyr247Cys). Zebrafish larvae subjected to CRISPR-Cas9 gene disruption or transient suppression of dync1i2a displayed significantly altered craniofacial patterning with concomitant reduction in head size. We monitored cell death and cell cycle progression in dync1i2a zebrafish models and observed significantly increased apoptosis, likely due to prolonged mitosis caused by abnormal spindle morphology, and this finding offers initial insights into the cellular basis of microcephaly. Additionally, complementation studies in zebrafish demonstrate that p.Tyr247Cys attenuates gene function, consistent with protein structural analysis. Our genetic and functional data indicate that DYNC1I2 dysfunction probably causes an autosomal-recessive microcephaly syndrome and highlight further the critical roles of the dynein-1 complex in neurodevelopment.

Project description:BackgroundInfants and children travel using passports that are typically valid for five years (e.g. Canada, United Kingdom, United States and Australia). These individuals may also need to be identified using images taken from videos and other sources in forensic situations including child exploitation cases. However, few researchers have examined how useful these images are as a means of identification.MethodsWe investigated the effectiveness of photo identification for infants and children using a face matching task, where participants were presented with two images simultaneously and asked whether the images depicted the same child or two different children. In Experiment 1, both images showed an infant (<1 year old), whereas in Experiment 2, one image again showed an infant but the second image of the child was taken at 4-5 years of age. In Experiments 3a and 3b, we asked participants to complete shortened versions of both these tasks (selecting the most difficult trials) as well as the short version Glasgow face matching test. Finally, in Experiment 4, we investigated whether information regarding the sex of the infants and children could be accurately perceived from the images.ResultsIn Experiment 1, we found low levels of performance (72% accuracy) for matching two infant photos. For Experiment 2, performance was lower still (64% accuracy) when infant and child images were presented, given the significant changes in appearance that occur over the first five years of life. In Experiments 3a and 3b, when participants completed both these tasks, as well as a measure of adult face matching ability, we found lowest performance for the two infant tasks, along with mixed evidence of within-person correlations in sensitivities across all three tasks. The use of only same-sex pairings on mismatch trials, in comparison with random pairings, had little effect on performance measures. In Experiment 4, accuracy when judging the sex of infants was at chance levels for one image set and above chance (although still low) for the other set. As expected, participants were able to judge the sex of children (aged 4-5) from their faces.DiscussionIdentity matching with infant and child images resulted in low levels of performance, which were significantly worse than for an adult face matching task. Taken together, the results of the experiments presented here provide evidence that child facial photographs are ineffective for use in real-world identification.

Dataset Information

Computer face-matching technology using two-dimensional photographs accurately matches the facial gestalt of unrelated individuals with the same syndromic form of intellectual disability.

Publications

Computer face-matching technology using two-dimensional photographs accurately matches the facial gestalt of unrelated individuals with the same syndromic form of intellectual disability.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets