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 |