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Consolidate CLI between servars/strucvars annotate and server
enhancement
New feature or request
#627
opened Nov 20, 2024 by
holtgrewe
During New feature or request
db create
, assert that target assemblies are identical when providing multiple cdot input files
enhancement
#616
opened Nov 11, 2024 by
tedil
Eventually cleanup endpoints without OpenAPI schema
enhancement
New feature or request
#608
opened Nov 8, 2024 by
holtgrewe
Write out data versions when building transcripts database
enhancement
New feature or request
#601
opened Nov 8, 2024 by
holtgrewe
Cannot handle new Dragen CNV VCF files
bug
Something isn't working
#557
opened Oct 7, 2024 by
holtgrewe
tx annotations missing for mt variants
bug
Something isn't working
#534
opened Sep 9, 2024 by
stolpeo
Add "intergenic" consequence
enhancement
New feature or request
#494
opened Jul 17, 2024 by
holtgrewe
Implement multiallelic variants/variant normalization
enhancement
New feature or request
#447
opened May 16, 2024 by
holtgrewe
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
Create a feature comparison matrix for mehari
enhancement
New feature or request
#425
opened Mar 29, 2024 by
xiamaz
Brackets missing in HGVS Protein description
bug
Something isn't working
#417
opened Mar 28, 2024 by
stolpeo
Factor V Leiden Mutation missing because of Transcript liftover
bug
Something isn't working
#412
opened Mar 25, 2024 by
einicke
Genome builds have no unified format
bug
Something isn't working
#408
opened Mar 15, 2024 by
gromdimon
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
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
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