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Issues: Clinical-Genomics/genmod
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Ensure "interesting" SO terms are up to date, and ideally synced by config
#156
opened Nov 28, 2024 by
dnil
genmod score reorders variants - order not compatible with bgzip & tabix
bug
#147
opened Oct 31, 2024 by
fellen31
How to interpret two or more inheritance mode given for a variant?
#145
opened Oct 28, 2024 by
rfarhad
Silently missing values when using integer format in rank model and encountering a float value
enhancement
#128
opened Mar 19, 2024 by
Jakob37
Compound is missed if one parent is genotyped for each variant
bug
#99
opened Jan 18, 2021 by
bartcharbon
Implement a tier based ranking for somatic mutations
enhancement
#95
opened May 27, 2020 by
hassanfa
genmod score, data_type=string appears to match when the rule is a substring of the string in the VCF
bug
#87
opened Jun 11, 2018 by
bjhall
"record_rule = max" appears to prioritize based on max(value) rather than max(score)
Task
#86
opened Jun 11, 2018 by
bjhall
CSQ field is not parsed properly in genmod score when using --skip_plugin_check
Task
#85
opened May 21, 2018 by
hassanfa
Modify rank model for reduced penetrance genes
Under discussion
#69
opened Dec 2, 2016 by
henrikstranneheim
Add support for IMPRECISE variants when querying a ref vcf
enhancement
#61
opened May 12, 2016 by
henrikstranneheim
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