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ngs-bits
Short-read sequencing tools
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GSvar: add REs to report config
#421
Open
marc-sturm
opened
1 year ago
marc-sturm
commented
1 year ago
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
ToDos SR:
[x] make separate step in megSAP
[x] update steps in GSvar.ini
[x] re-calulcate for all diagnostic genomes
[x] import into NGSD
[x] add distribution plots to GSvar
[x] set outlier cutoffs in NGSD and use in GSvar
[x] make distribution plots system-specific
[x] compare to NGS and FLA lengths
[x] add RE callset table
[x] re-import WGS calls to add callset
[x] call WES samples and import
[x] allow report config for REs
[x] add to report HTML
[x] add to report XML
[ ] correct report configs ("other causal variant > RE" to report config for RE)
[ ] - remove 'RE' as as type to report_configuration_other_causal_variant
[ ] add causal RE for WES/WGS/lrGS samples to NGSD
[x] update RE docu of GSvar
ToDos LR:
[x] update RE catalog
[x] make separate step in megSAP
[x] update steps in GSvar.ini
[x] re-calulcate for all diagnostic genomes
[x] import into NGSD
[x] set statistical cutoff in NGSD
leonschuetz
commented
5 months ago
Evaluate tools:
[ ]
PathSTR
[ ] LongTR
Before this issue:
ToDos SR:
ToDos LR: