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Status: Open.

#646 In exomiser/Exomiser;

· Hepit opened on Jun 11, 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

Examiner 15.0.0, data version 2512 - Genome of reference ?

Status: Open.

#642 In exomiser/Exomiser;

· MolecularBiologyTech opened on May 26, 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

Print CADD phred score

Status: Open.

#635 In exomiser/Exomiser;

· ccbruels opened on Mar 31, 2026

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

Status: Open.

#631 In exomiser/Exomiser;

· TimD1 opened on Mar 12, 2026

ClinVar data tools

Status: Open.

#630 In exomiser/Exomiser;

· julesjacobsen opened on Mar 11, 2026

output VCF is not spec compliant - ACMG_DISEASE_NAME can contain commas

Status: Open.

#629 In exomiser/Exomiser;

· ameynert opened on Mar 10, 2026