Computer face-matching technology using two-dimensional photographs accurately matches the facial gestalt of unrelated individuals with the same syndromic form of intellectual disability.
Tracy DuddingAnne BaxterElizabeth G HollidayAnna HackettSheridan O'DonnellSusan M WhiteJohn AttiaHan BrunnerBert de VriesDavid KoolenTjitske KleefstraSeshika RatwatteCarlos RiverosSteve BrainBrian C LovellPublished in: BMC biotechnology (2017)
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.
Keyphrases
- intellectual disability
- autism spectrum disorder
- deep learning
- genome wide
- electronic health record
- single cell
- circulating tumor
- gene expression
- big data
- single molecule
- risk assessment
- machine learning
- cell free
- artificial intelligence
- transcription factor
- climate change
- circulating tumor cells
- data analysis
- genome wide identification
- genome wide analysis