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lgmgeo / AnnotSV Public

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Fork 35
Star 215

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Issues 24
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annotation generation

annotation generation

Processing downloaded annotation files into the AnnotSV expected format

bug

Something isn't working

Docker/Singularity/Bioconda

Docker/Singularity/Bioconda

documentation

Improvements or additions to documentation

enhancement

New feature or request

help wanted

Extra attention is needed

HPO

Exomiser / PhenoGenius

install

knotAnnotSV

mouse

new annotation requested

new annotation requested

new functionality requested

new functionality requested

pyAnnotSV

Refactoring TCL into python3

ranking

square-bracketed SV notation

square-bracketed SV notation

Relies on the variant-extractor tool (Rodrigo Martín), https://github.com/EUCANCan/variant-extractor

VariantConvert

vcf output

web server

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