| | 1 | This page summaries the SV pipelines used in GoNL |
| | 2 | |
| | 3 | == SV modules == |
| | 4 | Because of different coverage, the following software are used to call SVs from GoNL data. |
| | 5 | * Pindel: Eric-Wubbo, Kai |
| | 6 | * DWAQseq/1-2-3 SV: Victor, Slavik |
| | 7 | * Breakdancer: Jayne, Joep |
| | 8 | * GenomeSTRiP: Bob, Laurent |
| | 9 | * CNVnater: Abdel |
| | 10 | |
| | 11 | The following software are used to assemble reads to detect novel (large) insertions. |
| | 12 | * soapdenovo: Victor |
| | 13 | * Abyss: Aby |
| | 14 | |
| | 15 | == Pilot phase == |
| | 16 | 16 trios, 4 quartets are used for pilot test. Here are the software setup. |
| | 17 | |
| | 18 | ==== Pindel ==== |
| | 19 | |
| | 20 | ==== DWAQseq/1-2-3 SV ==== |
| | 21 | |
| | 22 | ==== Breakdancer ==== |
| | 23 | |
| | 24 | ==== GenomeSTRiP ==== |
| | 25 | |
| | 26 | ==== CNVnater ==== |
| | 27 | |
| | 28 | ==== soapdenovo ==== |
| | 29 | |
| | 30 | ==== Abyss ==== |
| | 31 | |
| | 32 | |
| | 33 | == Production phase == |
| | 34 | UMCG BAMs to be used for production calls. |
| | 35 | |
| | 36 | ==== Pindel ==== |
| | 37 | |
| | 38 | ==== DWAQseq/1-2-3 SV ==== |
| | 39 | |
| | 40 | ==== Breakdancer ==== |
| | 41 | |
| | 42 | ==== GenomeSTRiP ==== |
| | 43 | |
| | 44 | ==== CNVnater ==== |
| | 45 | |
| | 46 | ==== soapdenovo ==== |
| | 47 | |
| | 48 | ==== Abyss ==== |