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Table 3 Results of the charted data items

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

Data item

Subcategories

Total/Frequency

Functionality

Analysis or comparison of genetic and phenotypic data

12 (63.2%)

Information retrieval

4 (21.0%)

Machine learning

3 (15.8%)

Development status

Fully developed systems

14 (73.7%)

Clinical prototypes

5 (26.3%)

Type of clinical data

Phenotypic and/or genetic data

12 (63.2%)

Clinical data

8 (42.1%)

Literature databases

3 (15.8%)

Patient questionnaires

2 (10.5%)

Rare Diseases covered

All rare diseases

15 (78.8%)

Neuromuscular rare diseases

1 (5.3%)

Pulmonary rare diseases

1 (5.3%)

Rare brain cancer diseases

1 (5.3%)

Other

1 (5.3%)

System availability

The system can be used online and free, subject to registration

6 (31.6%

The system is not available for personal use

5 (26.3%)

The system can be downloaded, subject to registration

4 (21.0%)

The system can be used online and free, no registration necessary

3 (15.8%)

The system can be downloaded, no registration necessary

1 (5.3%)

Data entry and integration

Data entry with forms and data upload is possible

6 (31.6%)

REST-API available

6 (31.6%)

Data entry is only possible with forms

4 (21.0%)

No information available

4 (21.0%)

ETL processes

1 (5.3%)

Data upload is possible

1 (5.3%)

Last software update

No information available

13 (68.4%)

Information available

6 (31.6%)

Current clinical usage

No information available

13 (68.4%)

Information available

6 (31.6%)