Annotation and Ranking of Structural Variation

262 stars 38 forks 262 watchers Tcl GNU General Public License v3.0
annotation cnv genetics ngs priorization ranking sv
2 Open Issues Need Help Last updated: Sep 12, 2025

Open Issues Need Help

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AI Summary: A user encountered an error when running the `nf-core` `annotsv_annotsv` module because AnnotSV could not find a specific annotation file. The issue stems from a directory name change in the downloaded annotations, where `NCBIgeneID` was renamed to `NCBIandHGNCgeneID`, causing a path mismatch.

Complexity: 2/5
help wanted install annotation generation

Annotation and Ranking of Structural Variation

Tcl
#annotation#cnv#genetics#ngs#priorization#ranking#sv

AI Summary: The user is encountering an error message indicating that annotation files are missing. The task is to determine how to download or obtain the necessary annotation files ('/Annotations_Human/Gene-based/NCBIandHGNCgeneID/geneSymbol_NCBIandHGNCgeneID.tsv') for the AnnotSV tool, considering the user's conda installation and Tcl/Tk version.

Complexity: 3/5
help wanted Docker/Singularity/Bioconda

Annotation and Ranking of Structural Variation

Tcl
#annotation#cnv#genetics#ngs#priorization#ranking#sv