PhenoScore: facial analysis with other clinical features using a machine-learning framework
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Several molecular and phenotypic algorithms exist that establish genotype–phenotype correlations, including facial recognition tools. However, no unified framework that investigates both facial data and other phenotypic data directly from individuals exists. We developed PhenoScore: an open-source, artificial intelligence-based phenomics framework, combining facial recognition technology with Human Phenotype Ontology data analysis to quantify phenotypic similarity. Here we show PhenoScore’s ability to recognize distinct phenotypic entities by establishing recognizable phenotypes for 37 of 40 investigated syndromes against clinical features observed in individuals with other neurodevelopmental disorders and show it is an improvement on existing approaches. PhenoScore provides predictions for individuals with variants of unknown significance and enables sophisticated genotype–phenotype studies by testing hypotheses on possible phenotypic (sub)groups. PhenoScore confirmed previously known phenotypic subgroups caused by variants in the same gene for SATB1, SETBP1 and DEAF1 and provides objective clinical evidence for two distinct ADNP-related phenotypes, already established functionally.
Date: 28 November 2023, 15:00 (Tuesday, 8th week, Michaelmas 2023)
Venue: https://zoom.us/j/91910322449?pwd=eXRTM01Bb1gyYjRBaWpQQmZEV3VqQT09
Speaker: Professor Lisenka Vissers (Radboud University, The Netherlands)
Organising department: Department of Psychiatry
Organiser: Dr Andrey Kormilitzin (University of Oxford)
Organiser contact email address: andrey.kormilitzin@psych.ox.ac.uk
Host: Dr Andrey Kormilitzin (University of Oxford)
Part of: Artificial Intelligence for Mental Health Seminar Series
Booking required?: Not required
Booking url: https://web.maillist.ox.ac.uk/ox/info/ai4mch
Booking email: andrey.kormilitzin@psych.ox.ac.uk
Audience: Public
Editor: Andrey Kormilitzin