ngs-bits
ngs-bits copied to clipboard
imgag
Short-read sequencing tools
Real time console output would be perfect, if it is achievable (especially, for the initial server setup)
Celery chain consists of several tasks, an output of one task is an input for the next one. Currently, if a single task in a chain fails, the whole chain...
Currently, somatic structural variants are chosen by hand. Like germline SVs, somatic SVs should be imported into NGSD and the user should be able to select a SV for the...
ToDo: - [ ] Maintainance (batch import) - [ ] NGSDImportGenlab - [ ] GSvar Genlab import dialog
- [ ] integrate in SNV widget - [ ] integrate in CNV widget - [ ] integrate in SV widget
Before this issue: - [x] decide with REs should be called in short-read and long-read genomes (clear disease association) - [x] collect/update meta data: cutoffs, repeat-structure, inheritance, disease name(s), HPO-terms...
Todo: - [x] convert BAMs of legacy samples to CRAM for diagnostics (WGS and WES) when GRCh38 with false duplications masked was used - [x] correct for GRCh38 with false...