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

Status: Open.

#655 In exomiser/Exomiser;

· dickyornot opened on Sep 9, 2026

Update variant pathogencity data using dbNSFP 5.4

Status: Open.

#654 In exomiser/Exomiser;

· julesjacobsen opened on Sep 1, 2026

Exomiser version data compatibility

Status: Open.

#653 In exomiser/Exomiser;

· PetJana opened on Aug 10, 2026

Missing EXOMISER_ACMG_DISEASE_NAME and EXOMISER_ACMG_DISEASE_ID columns in parquet output

Status: Open.

#652 In exomiser/Exomiser;

· yaseminbridges opened on Aug 4, 2026

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

Status: Open.

#651 In exomiser/Exomiser;

· julesjacobsen opened on Jul 29, 2026

Update SpliceAI scores with recalculated set for MANE 1.4

Status: Open.

#647 In exomiser/Exomiser;

· julesjacobsen opened on Jun 24, 2026

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

Status: Open.

#645 In exomiser/Exomiser;

· federedef opened on Jun 10, 2026

Questions about inheritanceModes, MOI scoring, and filtering behavior

Status: Open.

#643 In exomiser/Exomiser;

· federedef opened on May 27, 2026

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

Status: Open.

#641 In exomiser/Exomiser;

· yaseminbridges opened on May 13, 2026

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

Status: Open.

#638 In exomiser/Exomiser;

· julesjacobsen opened on Apr 14, 2026

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

Status: Open.

#637 In exomiser/Exomiser;

· ccbruels opened on Apr 8, 2026

Disease priority on the tsv file

Status: Open.

#636 In exomiser/Exomiser;

· barslmn opened on Apr 8, 2026