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16 Open 209 Closed
16 Open 209 Closed
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Issues list

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
4
Annotation in progress part costs too long time Docker/Singularity/Bioconda
#226 opened Apr 6, 2024 by boyanboyue
5
How to rank/prioritize inversions? ranking
#223 opened Mar 21, 2024 by lgmgeo
7
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
2
Issue for VCF conversion when two translocations start from the same position VariantConvert
#212 opened Feb 20, 2024 by nvnieuwk
2
Family-based filtering new functionality requested
#205 opened Dec 1, 2023 by paolomaccallini-hub
1
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
27
VCF field format issue VariantConvert
#191 opened Aug 11, 2023 by gevro
18
AnnotSV Singularity on an HPC Error command not found Docker/Singularity/Bioconda
#184 opened Jun 13, 2023 by yr542
24
AnnotSV doesn't add the sample IDs causing variantconvert to fail VariantConvert
#180 opened May 26, 2023 by nvnieuwk
17
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
10
exomiser error occurs when submits multiple jobs enhancement New feature or request HPO Exomiser / PhenoGenius
#72 opened Dec 7, 2021 by Jihoon-Yoon
1
Rank 2 always missing in ACMG_class column enhancement New feature or request ranking
#38 opened Feb 4, 2021 by ManavalanG
1
No releases available - Exomiser update documentation Improvements or additions to documentation enhancement New feature or request HPO Exomiser / PhenoGenius
#25 opened Sep 29, 2020 by pneerincx p
6
AnnotSV implementation in Python enhancement New feature or request
#23 opened Aug 24, 2020 by lgmgeo
6
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
13
ProTip! What’s not been updated in a month: updated:<2024-04-07.