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megSAP
a Medical Genetics Sequence Analysis Pipeline
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Implement repeat-expansion calling for long-reads
#204
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marc-sturm
opened
12 months ago
marc-sturm
commented
12 months ago
Implement RE calling for long-reads
[x] check for available tools (STRling, ...)
[ ] benchmark tools by coparing to short-read GS
[ ] validate postive controls
leonschuetz
commented
8 months ago
[x] implement straglr (most promising tool in Thomas validation without special mapping)
[x] write script to convert ExpansionHunter catalog
[ ] How to deal with complex repeats (call independent?)
[ ] Offtarget regions?
[ ] test/validate
leonschuetz
commented
7 months ago
[ ] add
-Y
parameter for minimap2 to softclip supplement reads
leonschuetz
commented
4 months ago
[x] implement in GSvar
[x] test Thomas' tool
Implement RE calling for long-reads