- Title
- Computer face-matching technology using two-dimensional photographs accurately matches the facial gestalt of unrelated individuals with the same syndromic form of intellectual disability
- Creator
- Dudding-Byth, Tracy; Baxter, Anne; Kleefstra, Tjitske; Ratwatte, Seshika; Riveros, Carlos; Brain, Steve; Lovell, Brian C.; Holliday, Elizabeth G.; Hackett, Anna; O'Donnell, Sheridan; White, Susan M.; Attia, John; Brunner, Han; de Vries, Bert; Koolen, David
- Relation
- BMC Biotechnology Vol. 17, no. 90
- Publisher Link
- http://dx.doi.org/10.1186/s12896-017-0410-1
- Publisher
- BioMed Central
- Resource Type
- journal article
- Date
- 2017
- Description
- 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? 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 < 0.00001). There was low agreement between the technology and clinicians, with higher accuracy of the technology when results were discordant (P < 0.01) for all syndromes except Kabuki syndrome. Conclusions: Although the accuracy of the computer face-matching technology was tested on images of individuals with known syndromic forms of intellectual disability, the results of this pilot study illustrate the potential utility of face-matching technology within deep phenotyping platforms to facilitate the interpretation of DNA sequencing data for individuals who remain undiagnosed despite testing the known developmental disorder genes.
- Subject
- 2D photography; clinical genetics; computer vision; computational biology; dysmorphology; facial gestalt; intellectual disability; syndromic; phenotyping
- Identifier
- http://hdl.handle.net/1959.13/1354219
- Identifier
- uon:31227
- Identifier
- ISSN:1472-6750
- Rights
- This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
- Language
- eng
- Full Text
- Reviewed
- Hits: 41218
- Visitors: 17853
- Downloads: 611
| Thumbnail | File | Description | Size | Format | |||
|---|---|---|---|---|---|---|---|
| View Details Download | ATTACHMENT02 | Publisher version (open access) | 412 KB | Adobe Acrobat PDF | View Details Download |