Search results

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

Exomiser doesn't calculate a variant score for non-symbolic insertions > 1kb

Status: Open.

#633 In exomiser/Exomiser;

· TimD1 opened on Mar 27, 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

Self built reference data

Status: Open.

#627 In exomiser/Exomiser;

· matthdsm opened on Mar 6, 2026

Create a demo dataset for teaching

Status: Open.

#623 In exomiser/Exomiser;

· julesjacobsen opened on Feb 27, 2026

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

Status: Open.

#622 In exomiser/Exomiser;

· julesjacobsen opened on Feb 25, 2026

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

Status: Open.

#610 In exomiser/Exomiser;

· domibln opened on Aug 28, 2025

Running Exomiser for a Family with Multiple Samples

Status: Open.

#608 In exomiser/Exomiser;

· cuzzlisa opened on Aug 13, 2025