Table 3 Rankings obtained for 29 previously diagnosed cases using our SeqNextGen pipeline compared to Exomiser18 and AMELIE19.
From: A flexible computational pipeline for research analyses of unsolved clinical exome cases
Patient ID | Sequencing platform | SeqNextGen | AMELIE | Exomiser |
|---|---|---|---|---|
SNG038 | Illumina | 1 | 3 | 1 |
SNG081 | Illumina | 1 | 1 | 1 |
SNG114 | Illumina | 1 | 1 | 1 |
SNG161 | Illumina | 4 | 4 | 1 |
SNG024 | Illumina | 1 | 13 | 0 |
SNG172 | Illumina | 1 | 0a | 0a |
SNG130 | Illumina | 1 | 1 | 1 |
SNG175 | Illumina | 1 | 25 | 9 |
SNG173 | Illumina | 1 | 2 | 1 |
SNG022 | Illumina | 1 | 9 | 1 |
SNG064 | Illumina | 1 | 1 | 1 |
SNG035 | Illumina | 1 | 3 | 1 |
SNG200 | Illumina | 27 | 31 | 45 |
SNG199 | Illumina | 13 | 4 | 3 |
SNG095 | Illumina | 1 | 4 | 1 |
SNG005 | Ion Torrent | 1 | 8 | 2 |
SNG019 | Ion Torrent | 1 | 1 | 2 |
SNG021 | Ion Torrent | 1 | 1 | 4 |
SNG027 | Ion Torrent | 3 | 17 | 15 |
SNG028 | Ion Torrent | 1 | 1 | 1 |
SNG062 | Ion Torrent | 2 | 0 | 0 |
SNG105 | Ion Torrent | 1 | 13 | 3 |
SNG106 | Ion Torrent | 1 | 1 | 1 |
SNG066 | Ion Torrent | 1 | 2 | 0 |
SNG012 | Ion Torrent | 1 | 19 | 10 |
SNG017 | Ion Torrent | 4 | 3 | 205 |
SNG018 | Ion Torrent | 7 | 5 | 120 |
SNG008 | Solid | 1 | 1 | 1 |
SNG045 | Solid | 19 | 14 | 84 |
Better rank (%) | 4 (14%) | 2 (7%) | ||
Same rank (%) | 10 (34%) | 12 (41%) | ||
Worse rank (%) | 15 (52%) | 15 (52%) | ||
Total | 29 | 29 |
