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