Table 1.
More than half of all scored genes were placed within the “Minimal Evidence Category”
| Category | Score | Number genes | Percent genes | Average year of discovery | Papers observed | Papers expected (all years) 1 | Skewing 2 |
|---|---|---|---|---|---|---|---|
| Syndromic |
S |
22 |
11.2 |
2003.7 |
714 |
160 |
4.4x |
| High confidence |
1 |
0 |
0.0 |
n/a |
0 |
0 |
n/a |
| Strong candidate |
2 |
5 |
2.6 |
2007.0 |
72 |
37 |
1.9x |
| Suggestive |
3 |
17 |
8.7 |
2004.4 |
187 |
125 |
1.5x |
| minimal evidence |
4 |
114 |
58.2 |
2007.0 |
360 |
834 |
0.4x |
| Hypothesized |
5 |
31 |
15.8 |
2005.2 |
82 |
226 |
0.4x |
| Not supported | 6 | 7 | 3.6 | 2003.1 | 18 | 52 | 0.3x |
1 For each category, the percentage of total genes as a function of the total number of papers observed across all categories (n = 1,434).
2.Papers observed/papers expected (all years).