Clinical-Genomics/genmod
Annotate models of genetic inheritance patterns in variant files (vcf files)
PythonMIT
Issues
- 2
Is `--whole_gene` deprecated?
#146 opened by fellen31 - 1
- 0
- 1
genmod score, data_type=string appears to match when the rule is a substring of the string in the VCF
#87 opened by bjhall - 5
- 0
Scoring an empty VCF
#130 opened by fellen31 - 0
Phased models bugged?
#126 opened by dnil - 0
Use poetry
#143 opened by dnil - 0
- 2
"record_rule = max" appears to prioritize based on max(value) rather than max(score)
#86 opened by bjhall - 2
String matching in clinvar records..
#92 opened by dnil - 2
CSQ field is not parsed properly in genmod score when using --skip_plugin_check
#85 opened by hassanfa - 1
- 3
- 0
ANN standard format
#96 opened by dridk - 2
Error occurs if one or more variants in vep annotated VCF lacks VEP annotation when running with --vep
#105 opened by bartcharbon - 2
- 2
Silently missing values when using integer format in rank model and encountering a float value
#128 opened by Jakob37 - 4
Failing update pypi action - add as trusted repo on pypi
#141 opened by dnil - 1
Link to documentation broken
#112 opened by Jakob37 - 0
Genmod compounds control threshold and assigned score
#137 opened by Jakob37 - 0
Model discrepancy when chrX has chr prefix (GRCh38)
#132 opened by fellen31 - 0
- 1
Malformed INFO lines
#131 opened by fellen31 - 0
Mixed int-float in RankScore
#121 opened by torbjorgen - 2
- 1
python3.10: import error
#119 opened by jemten - 2
container broken for version 3.8
#115 opened by jemten - 0
Tag, build new release
#113 opened by torbjorgen - 1
Food for thought: rank STR expansion variants?
#84 opened by dnil - 9
- 1
- 6
Genmod models '--vep' option throws exception
#98 opened by bartcharbon - 2
- 0
no genetic model annotation
#94 opened by caozongfu - 1
- 1
- 1
Automatically determine pedigree?
#89 opened by santiagorevale - 0
Incompatible CLI with click 7.0
#90 opened by henrikstranneheim - 2
No "GeneticModels=" in the output
#88 opened by jielab - 0
Compound error in 3.7.1 when single parent
#82 opened by moonso - 2
- 1
Fix SyntaxError due to missing contig length for multisample VCF generated by Freebayes
#73 opened by nilesh-tawari - 2
does not work
#78 opened by brianlamx - 0
genmod build command does not work
#74 opened by brianlamx - 2
VEP Friendly Output
#65 opened by AndrewSkelton - 2
- 5
Ped File
#64 opened by AndrewSkelton - 0
Problem with encodings
#63 opened by moonso - 2
handle about the GATKHardSNP in VCF header
#62 opened by hmkim