Skip to main content

Table 6 Summary for clinical usage – CDSSs using analysis of genetic and phenotypic data

From: Diagnosis of Rare Diseases: a scoping review of clinical decision support systems

CDSSs using analysis of genetic and phenotypic data • GenIO [29]
• Phenopolis [31]
• GEMINI [24]
Development status and system availability • GenIO: Fully developed system. The system can be used online and free, no registration necessary
• Phenopolis: Fully developed system. The system can be downloaded, subject to registration
• GEMINI: Fully developed System. The system can be downloaded, subject to registration
Type of clinical data • GenIO: Phenotypic, genetic and clinical data
• Phenopolis: Phenotypic data and genetic data
• GEMINI: Phenotypic, genetic and clinical data
Rare Diseases covered • GenIO: All rare diseases
• Phenopolis: All rare diseases
• GEMINI: All rare diseases
Data entry and integration • GenIO: Data entry with forms and data upload is possible
• Phenopolis: Data entry is only possible with forms
• GEMINI: Data upload and REST API available
Last software update • GenIO: Version 1.0, 22nd of November 2017
• Phenopolis: Version 1.0.2, 12 h of November 2017
• GEMINI: Version 0.20.1, no date available
Clinical usage • GenIO: No information available
• Phenopolis: No information available
• GEMINI: No information available