Publication | Open Access

PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework

Phenotypic VariationEngineeringMachine-learning FrameworkGeneticsBiometricsMedicinePathologyStatistical GeneticsPersonal GenomicsBiostatisticsPhenoscore QuantifiesFacial AnalysisMolecular DiagnosticsBioinformaticsDisease Classification