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30 Open 52 Closed
30 Open 52 Closed
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Issues list

Add "intergenic" consequence enhancement New feature or request
#494 opened Jul 17, 2024 by holtgrewe
Update annonars dependency, adjust to ClinVar protobuf changes enhancement New feature or request
#455 opened Jun 10, 2024 by holtgrewe
Compare mehari annotation with VEP annotation
#449 opened May 29, 2024 by tedil
@xiamaz @tedil
2
Implement multiallelic variants/variant normalization enhancement New feature or request
#447 opened May 16, 2024 by holtgrewe
2
unannotated MT variants for RefSeq bug Something isn't working
#441 opened May 2, 2024 by stolpeo
@tedil
4
Termination positions for Frameshift/Nonesence SeqVars are not set properly bug Something isn't working
#437 opened Apr 18, 2024 by gromdimon
Variant DEL-grch37-5-150175225-150181898 exonic, but overlaps 3'utr only bug Something isn't working
#434 opened Apr 11, 2024 by xiamaz
1
Profile mehari enhancement New feature or request
#430 opened Apr 2, 2024 by xiamaz
@xiamaz @tedil
6
Annotation plugin support enhancement New feature or request
#426 opened Apr 1, 2024 by xiamaz
@xiamaz
7
Create a feature comparison matrix for mehari enhancement New feature or request
#425 opened Mar 29, 2024 by xiamaz
2
Brackets missing in HGVS Protein description bug Something isn't working
#417 opened Mar 28, 2024 by stolpeo
@xiamaz
1
Factor V Leiden Mutation missing because of Transcript liftover bug Something isn't working
#412 opened Mar 25, 2024 by einicke
@xiamaz
Genome builds have no unified format bug Something isn't working
#408 opened Mar 15, 2024 by gromdimon
@xiamaz
3
Follow-up for missing RNA genes on chrMT enhancement New feature or request
#392 opened Mar 5, 2024 by holtgrewe
Add message to server tx query result in case of issues enhancement New feature or request
#386 opened Mar 4, 2024 by holtgrewe
Mehari needs better handling of transcripts without stop codon in CDS, e.g., NM_001291324 bug Something isn't working
#383 opened Mar 4, 2024 by holtgrewe
3
Ensure ManePlusClinical is properly recognized/annotated bug Something isn't working
#301 opened Dec 27, 2023 by holtgrewe
@holtgrewe
3
Define transcript preference enhancement New feature or request
#264 opened Nov 17, 2023 by holtgrewe
Implement interpretation of physical phasing information enhancement New feature or request
#251 opened Nov 9, 2023 by holtgrewe
Implement NMD and NMD escape annotations enhancement New feature or request
#246 opened Nov 7, 2023 by holtgrewe
Review skipped genes when building transcript database enhancement New feature or request
#212 opened Oct 12, 2023 by holtgrewe
Return SO identifiers from consequences REST API enhancement New feature or request
#149 opened Jul 27, 2023 by holtgrewe
Make librocksdb dependency optional enhancement New feature or request
#129 opened Jul 6, 2023 by holtgrewe
Further perform cross-validation with VEP enhancement New feature or request
#38 opened Apr 6, 2023 by holtgrewe
Implement MODIFIER NMD_transcript_variant enhancement New feature or request
#36 opened Apr 5, 2023 by holtgrewe
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