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Performance of the method in CAGI SickKids5 challenge
| Broad disease class | Total number of cases | Number of cases with correct disease class assignment | Number of cases with exact match between clinical profile and genome | Number of cases with proposed diagnostic genes considered probable by the assessor |
|---|---|---|---|---|
| Connective tissue disorder | 11 | 6 | 2 | 1 |
| Eye disorder | 6 | 3 | 2 | 2 |
| Neurological disorder | 7 | 3 | 1 | 0 |
