Issues

• Exon-loss <DEL> fails PathogenicityFilter with target: NON_CODING

  exomiser/Exomiser#656 · Filter by author akihikomit opened on Sep 19, 2026

• Questions regarding OTOGL variant prioritization and ACMG Evidence impact in Exomiser v15 (DB v2602)

  exomiser/Exomiser#655 · Filter by author dickyornot opened on Sep 9, 2026

• Update variant pathogencity data using dbNSFP 5.4

  exomiser/Exomiser#654 · Filter by author julesjacobsen opened on Sep 1, 2026

• Exomiser version data compatibility

  exomiser/Exomiser#653 · Filter by author PetJana opened on Aug 10, 2026
  1

• Missing EXOMISER_ACMG_DISEASE_NAME and EXOMISER_ACMG_DISEASE_ID columns in parquet output

  exomiser/Exomiser#652 · Filter by author yaseminbridges opened on Aug 4, 2026

• Confusing contributing variant / gene mode outputs for genes with *only* ./1 reported variants

  exomiser/Exomiser#651 · Filter by author julesjacobsen opened on Jul 29, 2026
  1

• Update SpliceAI scores with recalculated set for MANE 1.4

  exomiser/Exomiser#647 · Filter by author julesjacobsen opened on Jun 24, 2026

• Discrepancy between inheritance-filtered variants reported in logs and variants written to VCF output

  exomiser/Exomiser#645 · Filter by author federedef opened on Jun 10, 2026

• Questions about inheritanceModes, MOI scoring, and filtering behavior

  exomiser/Exomiser#643 · Filter by author federedef opened on May 27, 2026
  1

• diseaseMatches is not populated in parquet output but HUMAN_PHENO_EVIDENCE populated in genes.tsv output

  exomiser/Exomiser#641 · Filter by author yaseminbridges opened on May 13, 2026

• Revisit structural and non-coding annotation pathways for both symbolic short-reads and precise long-reads

  exomiser/Exomiser#638 · Filter by author julesjacobsen opened on Apr 14, 2026
  1

• ANO5 Gene has associated diseases in HPO database, but not in exomiser output

  exomiser/Exomiser#637 · Filter by author ccbruels opened on Apr 8, 2026
  12

• Disease priority on the tsv file

  exomiser/Exomiser#636 · Filter by author barslmn opened on Apr 8, 2026
  1

• The per-record annotation TSV output by exomiser annotate has no header

  exomiser/Exomiser#631 · Filter by author TimD1 opened on Mar 12, 2026
  1

• ClinVar data tools

  exomiser/Exomiser#630 · Filter by author julesjacobsen opened on Mar 11, 2026

• output VCF is not spec compliant - ACMG_DISEASE_NAME can contain commas

  exomiser/Exomiser#629 · Filter by author ameynert opened on Mar 10, 2026
  1

• Self built reference data

  exomiser/Exomiser#627 · Filter by author matthdsm opened on Mar 6, 2026
  3

• Investigate OCI images + oras for more efficient data distribution, storage and updates

  exomiser/Exomiser#622 · Filter by author julesjacobsen opened on Feb 25, 2026

• Update Exomiser to not require any genomic data in phenotype-only mode

  exomiser/Exomiser#610 · Filter by author domibln opened on Aug 28, 2025
  2

  

• Running Exomiser for a Family with Multiple Samples

  exomiser/Exomiser#608 · Filter by author cuzzlisa opened on Aug 13, 2025
  1

• Clarification on Frequency Filtering in GENOMISER (WGS Data)

  exomiser/Exomiser#606 · Filter by author poddarharsh15 opened on Aug 7, 2025
  1

• Include Permission Errors in Dry Run Error Output

  exomiser/Exomiser#604 · Filter by author yaseminbridges opened on Jul 7, 2025

• Mode of inheritance for Orphanet entries

  bug
  exomiser/Exomiser#603 · Filter by author pnrobinson opened on Jun 22, 2025
  5

• Enter CAGI 7 RGP challenge

  exomiser/Exomiser#601 · Filter by author julesjacobsen opened on Jun 11, 2025

• Add VUS tiering

  exomiser/Exomiser#600 · Filter by author julesjacobsen opened on Jun 11, 2025