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VCF for false positive deletion and for compund etherozygosity
#251
opened Aug 15, 2024 by
paolomaccallini-hub
AnnotSV" line 283
bug
Something isn't working
Docker/Singularity/Bioconda
#250
opened Aug 6, 2024 by
bioinfomatio
AnnotSV passing wrong arguments to variant convert
bug
Something isn't working
Docker/Singularity/Bioconda
#246
opened Jul 10, 2024 by
GACGAMA
Unusual large memory needed for very large sized coupled BNDs
bug
Something isn't working
help wanted
Extra attention is needed
square-bracketed SV notation
Relies on the variant-extractor tool (Rodrigo Martín), https://github.com/EUCANCan/variant-extractor
#232
opened Apr 26, 2024 by
jamigo
AnnotSV structural variant chromosome start/stop position does not match VCF file position
help wanted
Extra attention is needed
#217
opened Mar 6, 2024 by
mxiong2
Issue for VCF conversion when two translocations start from the same position
VariantConvert
#212
opened Feb 20, 2024 by
nvnieuwk
Conda (and container) version of AnnotSV runs into error when run with -hpo arg
bug
Something isn't working
Docker/Singularity/Bioconda
#195
opened Sep 6, 2023 by
ManavalanG
AnnotSV Singularity on an HPC Error
command not found
Docker/Singularity/Bioconda
#184
opened Jun 13, 2023 by
yr542
Using CHM13 as a reference
annotation generation
Processing downloaded annotation files into the AnnotSV expected format
enhancement
New feature or request
new annotation requested
#164
opened Mar 27, 2023 by
steven-solar
exomiser error occurs when submits multiple jobs
enhancement
New feature or request
HPO
Exomiser / PhenoGenius
#72
opened Dec 7, 2021 by
Jihoon-Yoon
Rank 2 always missing in New feature or request
ranking
ACMG_class
column
enhancement
#38
opened Feb 4, 2021 by
ManavalanG
No releases available - Exomiser update
documentation
Improvements or additions to documentation
enhancement
New feature or request
HPO
Exomiser / PhenoGenius
AnnotSV implementation in Python
enhancement
New feature or request
#23
opened Aug 24, 2020 by
lgmgeo
max size for a Tcl value (2147483647 bytes) exceeded
bug
Something isn't working
enhancement
New feature or request
#15
opened Jun 11, 2020 by
ekarlins
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