Statistics on Solexa/Illumina massively parallel resequencing runs of five DNA pools derived from 120 patients with nephronophthisis associated ciliopathies (NPHP-AC)
| Patient pool | DNAs pooled | No. of reads (39 bases) | Mean coverage depth of coding regions | Median coverage depth of coding regions | Maximum coverage depth of coding regions | Coding bases covered ≥300× [%] | VRS | SNP130 | VRS in HRC1-pool | VRS minus SNPv130 minus HRC1-pool | VRS (PolyPhen-2 score ≥0.7) | Confirmed by Sanger sequencing |
| Pool 1 | 24 | 15600763 | 6239 | 4567 | 53284 | 97.6 | 67 | 26 | 2 | 39 | 32 | 24 (75%) |
| Pool 2 | 24 | 16580432 | 5561 | 4429 | 34507 | 95.6 | 85 | 27 | 17 | 41 | 16 | 8 (50%) |
| Pool 3 | 24 | 15536857 | 4690 | 3809 | 29767 | 91.4 | 121 | 25 | 14 | 82 | 36 | 18 (50%) |
| Pool 4 | 24 | 15741392 | 4842 | 2877 | 48372 | 95.1 | 57 | 19 | 8 | 30 | 19 | 15 (79%) |
| Pool 5 | 24 | 19882361 | 7432 | 5250 | 54386 | 97.5 | 49 | 22 | 8 | 19 | 11 | 8 (73%) |
| Sum | 120 | 83341805 | NA | NA | NA | NA | 379 | 119 | 49 | 211 | 114 | 74 (65%) |
| Mean | 24 | 16668361 | 5753 | 4186 | 44063 | 95.4 | 86 | 25 | 10 | 42 | 23 | 15 |
HRC-1, human random control DNA panel-1; SNP, single nucleotide polymorphism; VRS, variants from reference sequence.