Table 3 Publication summary
From: Diagnosis support systems for rare diseases: a scoping review
| Material | Knowledge | Machine learning | Articles |
|---|---|---|---|
| Phenotype concepts (22 studies) | Knowledge-based (14 studies) | No | [2, 54, 55, 61, 63,64,65,66,67,68,69,70,71, 77] |
| Hybrid (7 studies) | Yes | [27, 73,74,75,76, 78] | |
| No | [25] | ||
| Data driven (1 study) | Yes | [72] | |
| Fluids (12 studies) | Hybrid (2 studies) | Yes | [28, 29] |
| Data driven (10 studies) | Yes | [20, 23, 24, 31, 36, 42, 47, 48, 56, 60] | |
| Images (16 studies) | Hybrid (2 studies) | Yes | [41, 45] |
| Data driven (14 studies) | Yes | [19, 21, 22, 30, 33,34,35, 43, 44, 49, 51, 57, 59, 62] | |
| Questionnaires (3 studies) | Data driven (3 studies) | Yes | [52, 53, 58] |
| Family history and combined material (8 studies) | Knowledge-based (5 studies) | No | [26, 32, 38, 46, 50] |
| Hybrid (2 studies) | Yes | [37, 39] | |
| Data driven (1 study) | Yes | [40] |
