From: Diagnosis of Rare Diseases: a scoping review of clinical decision support systems
CDSSs using comparison of genetic and phenotypic data | • DECIPHER [33] |
• GeneMatcher [27] | |
• GeneYenta [28] | |
• Matchmaker Exchange [30] | |
• PhenomeCentral [34] | |
• PhenoTips [32] | |
• Phenomizer [22] | |
• PhenoDB [23] | |
• GenomeConnect [25] | |
Development status and system availability | • DECIPHER, GeneMatcher, GeneYenta, Matchmaker Exchange, PhenomeCentral, GenomeConnect: Fully developed system. The system can be used online and free, subject to registration |
• PhenoDB, PhenoTips: Fully developed System. The system can be downloaded, subject to registration | |
• Phenomizer: Fully developed system. The system can be used online and free, no registration necessary | |
Type of clinical data | • DECIPHER, GeneMatcher, PhenoDB, GenomeConnect: Phenotypic and genetic data |
• GeneYenta, Phenomizer: Phenotypic data | |
• Matchmaker Exchange, PhenoTips, PhenomeCentral: Phenotypic, genetic and clinical data | |
Rare Diseases covered | • DECIPHER, GeneMatcher, GeneYenta, Matchmaker Exchange, PhenomeCentral, PhenoTips, Phenomizer, PhenoDB, GenomeConnect: All rare diseases |
Data entry and integration | • DECIPHER, PhenomeCentral, PhenoDB, GenomeConnect, PhenoTips: Data entry with forms and data upload is possible |
• GeneMatcher, GeneYenta, Phenomizer: Data entry is possible with forms | |
• Matchmaker Exchange, DECIPHER, GeneMatcher, PhenomeCentral, PhenoTips: REST API available | |
Last software update | • DECIPHER, GeneMatcher, GeneYenta, Phenomizer, PhenoDB, GenomeConnect: No information available |
• Matchmaker Exchange: Version 1.1, 20th of August 2019 | |
• PhenomeCentral: Version 1.2.0, 14th of August 2019 | |
• PhenoTips: Version 1.4.7, 17 h of May 2019 | |
Clinical usage | • DECIPHER: 270 centres, 36.000 patient cases |
• GeneMatcher: 8807 users from 90 countries | |
• GeneYenta: No information available | |
• Phenomizer: No information available | |
• PhenoDB: No information available | |
• Matchmaker Exchange: Information about connected platforms are available (see https://www.matchmakerexchange.org/statistics.html) | |
• PhenomeCentral: 10.000 patient cases | |
• PhenoTips: Used in over 60 countries | |
• GenomeConnect: No information available |