Table 2.
Performance of Five Candidate-Gene-Prioritization Methods on Seven Recently Identified Monogenic Disease Genes
Family | Gene | Rankings |
||||
---|---|---|---|---|---|---|
Random Walk | ENDEAVOUR | SP | DI | SQ | ||
Nephronophthisis | GLIS237 | 100 | 43 | 100 | 100 | 3∗ |
ARVD | JUP38 | 1∗ | 1∗ | 1∗ | 2 | 67 |
RP | TOPORS39 | 23 | 69 | 20∗ | 100 | 56 |
RP | NR2E340 | 2 | 2 | 18 | 100 | 1∗ |
Noonan Syndrome | RAF141 | 1∗ | 3 | 4 | 4 | 42 |
Brachydactyly | NOG42 | 1∗ | 5 | 1∗ | 1∗ | 34 |
CMT4H | FGD443 | 13 | 2∗ | 27 | 100 | 9 |
Mean Enrichment | 25.9∗ | 18.4 | 17.2 | 12.8 | 10.9 |
Results of random walk, two local network algorithms, ENDEAVOUR,10 and the sequence analysis program PROSPECTR12 for the prediction of recently published genes causing monogenic diseases within artificial linkage intervals containing 100 genes.
“SP” denotes ranking according to shortest path.
“DI” denotes ranking according to direct interaction with a known disease protein.
“SQ” denotes ranking by sequence analysis with PROSPECTR.
“ARVD” denotes arrhythmogenic right ventricular dysplasia.
“RP” denotes retinitis pigmentosa.
“CMT4H” denotes Charcot-Marie-Tooth type 4H.
indicates best performance.