Labels

19 labels

annotation generation
annotation generation
Processing downloaded annotation files into the AnnotSV expected format
bug
bug
Something isn't working
Docker/Singularity/Bioconda
Docker/Singularity/Bioconda
documentation
documentation
Improvements or additions to documentation
enhancement
enhancement
New feature or request
help wanted
help wanted
Extra attention is needed
HPO
HPO
Exomiser / PhenoGenius
install
install
knotAnnotSV
knotAnnotSV
mouse
mouse
new annotation requested
new annotation requested
new functionality requested
new functionality requested
pyAnnotSV
pyAnnotSV
Refactoring TCL into python3
ranking
ranking
SQL database integration
SQL database integration
square-bracketed SV notation
square-bracketed SV notation
Relies on the variant-extractor tool (Rodrigo Martín), https://github.com/EUCANCan/variant-extractor
VariantConvert
VariantConvert
vcf output
vcf output
web server
web server