| 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 ==== |