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128 Open 365 Closed
128 Open 365 Closed
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Issues list

Create long-term archival format for variant data
#503 opened Jul 18, 2023 by julesjacobsen
Users want to use Exomiser as an annotation tool...
#498 opened Jul 3, 2023 by julesjacobsen
Variants not being passed into Exomiser
#496 opened Jun 6, 2023 by brendan-kearney
2
Add analysis strategies to docs
#492 opened Apr 20, 2023 by julesjacobsen
1
Replace phenopacket ingest code with phenopacket-tools-io
#491 opened Apr 18, 2023 by julesjacobsen
An error: comparison of unrelated phenotypes
#490 opened Apr 7, 2023 by jagcsun
4
TSV_VARIANT outputs only prioritized variants with exomiser gene score > 0
#488 opened Mar 29, 2023 by saramonzon
1
Update phenotype schema sem-sim tables
#483 opened Mar 9, 2023 by julesjacobsen
2
Add more complete coverage of ACMG categories
#473 opened Feb 3, 2023 by julesjacobsen
2 of 4 tasks
1
Can Exomiser perform segregation analysis?
#464 opened Nov 8, 2022 by nvadgama87
6
Inverstigate unifying the InheritanceMode / ModeOfInheritance / SubModeOfInheritance enumerations
#463 opened Nov 4, 2022 by julesjacobsen
1
Replace OmimPrioritiser with DiseaseDao and function in GeneScorer
#461 opened Nov 4, 2022 by julesjacobsen
@julesjacobsen
Add Gene and Variant ranks to AnalysisResults and JSON output
#458 opened Oct 18, 2022 by julesjacobsen
1
Throw an error when input VCF is missing GT field core task
#453 opened Oct 3, 2022 by julesjacobsen
1
Investigate adding ClinGen disease gene validity data
#451 opened Sep 25, 2022 by julesjacobsen 15.0.0
1
Permissive Parsing and Phenopacket Versions
#450 opened Sep 21, 2022 by iimpulse
2
Errors in phenotype matching
#444 opened Jun 24, 2022 by pnrobinson
Improve Exomiser HTML
#443 opened Jun 24, 2022 by pnrobinson 14.0.0
3
IGV plugin for results viewing
#438 opened May 16, 2022 by julesjacobsen
multi-proband in multi-VCFs
#431 opened Apr 1, 2022 by luceamso
1
Enable Short Tandem Repeat prioritisation using ExpansionHunter
#420 opened Feb 21, 2022 by julesjacobsen
1
Issue encountered while running exomiser through Docker
#416 opened Jan 7, 2022 by wowwish
9
exomiser-rest-prioritiser 13.0?
#414 opened Nov 30, 2021 by holtgrewe
3
One sample from multi-sample VCF
#413 opened Nov 23, 2021 by C-Gouveia
1
Results folder empty
#404 opened Aug 4, 2021 by soumyarao86
2
ProTip! What’s not been updated in a month: updated:<2024-06-08.