From: Assessing rare diseases prevalence using literature quantification
Prevalence | Number of diseases | Treshold | Sensibility % [IC 95%] | Specificity % [IC 95%] | AUC% [IC 95%] |
---|---|---|---|---|---|
Query strategy 1 | |||||
< 1/1,000,000 | 2970 | ||||
1–9/1,000,000 | 41 | 104.5 | 90.5 [85.4, 94.9] | 91.9 [90.9, 92.8] | 95.6 [93.9, 97.3] |
1–9/100,000 | 84 | 74.5 | 90.6 [84.6, 95.7] | 88.7 [87.5, 89.8] | 94.5 [92.2, 96.8] |
1–9/10,000 | 33 | 487 | 87.9 [75.8, 97] | 95.2 [94.4, 95.9] | 94.9 [90.2, 99.6] |
Query strategy 2 | |||||
< 1/1,000,000 | 2970 | ||||
1–9/1,000,000 | 41 | 74.5 | 78.5 [72.2; 84.8] | 93.7 [92.8, 94.5] | 91.9 [89.1, 94.8] |
1–9/100,000 | 84 | 74.5 | 78.6 [70.9; 85.5] | 92.7 [91.7, 93.6] | 92.2 [89.1, 95.2] |
1–9/10,000 | 33 | 93.5 | 81.8 [69.7; 93.9] | 92.1 [91.1, 93] | 92 [86.1, 98] |
Query strategy 3 | |||||
< 1/1,000,000 | 2970 | ||||
1–9/1,000,000 | 41 | 147.5 | 90.5 [86.1, 94.9] | 85.4 [84.1, 86.7] | 91.4 [89.4, 93.5] |
1–9/100,000 | 84 | 229 | 88 [82.1, 94] | 86.8 [85.6, 88.1] | 90.3 [87.7, 92.9] |
1–9/10,000 | 33 | 229 | 97 [90.9, 100] | 84.9 [83.7, 86.1] | 91.8 [87, 96.6] |