Issues

• refactor: restrict mehari db to transcript databases (move variant DB creation to annonars)

  varfish-org/mehari#1033 · Filter by author holtgrewe-mgm opened on Jul 6, 2026

• Don't special case chromosome names with and without "chr" prefix

  varfish-org/mehari#813 · Filter by author tedil opened on Aug 5, 2025

• Screen database build reports for important transcripts

  enhancement
  varfish-org/mehari#798 · Filter by author holtgrewe opened on Jul 25, 2025

• tsv output can contain empty sample/genotype-data which causes bugs in varfish

  enhancement
  varfish-org/mehari#672 · Filter by author Nicolai-vKuegelgen opened on Jan 21, 2025

• annotate seqvars tsv export transcript selection is not apparent

  enhancement
  varfish-org/mehari#669 · Filter by author Nicolai-vKuegelgen opened on Jan 21, 2025

• Add missing gnomAD database link in documentation

  varfish-org/mehari#626 · Filter by author coderabbitai opened on Nov 20, 2024
  

• Improve Utoipa usage

  enhancement
  varfish-org/mehari#613 · Filter by author holtgrewe opened on Nov 11, 2024
  

• Eventually cleanup endpoints without OpenAPI schema

  enhancement
  varfish-org/mehari#608 · Filter by author holtgrewe opened on Nov 8, 2024
  1

• Cannot handle new Dragen CNV VCF files

  bug
  varfish-org/mehari#557 · Filter by author holtgrewe opened on Oct 7, 2024

• Implement multiallelic variants/variant normalization

  enhancementwontfix
  varfish-org/mehari#447 · Filter by author holtgrewe opened on May 16, 2024
  2

• Variant DEL-grch37-5-150175225-150181898 exonic, but overlaps 3'utr only

  bug
  varfish-org/mehari#434 · Filter by author xiamaz opened on Apr 11, 2024
  2

• Annotation plugin support

  enhancement
  varfish-org/mehari#426 · Filter by author xiamaz opened on Apr 1, 2024
  7

  

• Create a feature comparison matrix for mehari

  enhancement
  varfish-org/mehari#425 · Filter by author xiamaz opened on Mar 29, 2024
  2

• Brackets missing in HGVS Protein description

  bug
  varfish-org/mehari#417 · Filter by author stolpeo opened on Mar 28, 2024
  1

  

• Genome builds have no unified format

  bug
  varfish-org/mehari#408 · Filter by author gromdimon opened on Mar 15, 2024
  4

  

• Add message to server tx query result in case of issues

  enhancement
  varfish-org/mehari#386 · Filter by author holtgrewe opened on Mar 4, 2024

• Mehari needs better handling of transcripts without stop codon in CDS, e.g., NM_001291324

  bug
  varfish-org/mehari#383 · Filter by author holtgrewe opened on Mar 4, 2024
  3

• Implement interpretation of physical phasing information

  enhancement
  varfish-org/mehari#251 · Filter by author holtgrewe opened on Nov 9, 2023

• Implement NMD and NMD escape annotations

  enhancement
  varfish-org/mehari#246 · Filter by author holtgrewe opened on Nov 7, 2023

• Review skipped genes when building transcript database

  enhancement
  varfish-org/mehari#212 · Filter by author holtgrewe opened on Oct 12, 2023

• Implement MODIFIER NMD_transcript_variant

  enhancement
  varfish-org/mehari#36 · Filter by author holtgrewe opened on Apr 5, 2023

• Allow predicting 5_prime_UTR_premature_start_codon_gain_variant

  enhancement
  varfish-org/mehari#16 · Filter by author holtgrewe opened on Mar 27, 2023

• Allow for bit packed DNA encoding

  enhancement
  varfish-org/mehari#9 · Filter by author holtgrewe opened on Mar 14, 2023

• Adjust threshold for splice variants.

  enhancementgood first issue
  varfish-org/mehari#321 · Filter by author holtgrewe opened on Jan 29, 2022
  1