Search results

Add missing ALPHA_MISSENSE to preset.yml files

Status: Open.

#588 In exomiser/Exomiser;

· julesjacobsen opened on Jan 17, 2025

Add CADD-SV

Status: Open.

#587 In exomiser/Exomiser;

· julesjacobsen opened on Jan 10, 2025

Application run failed

Status: Open.

#586 In exomiser/Exomiser;

· abrusell opened on Jan 9, 2025

Information about Running Exomiser Without HPO-IDs and Adding CADD-SV Scores

Status: Open.

#585 In exomiser/Exomiser;

· poddarharsh15 opened on Jan 9, 2025

CADD 1.7 and ReMM 0.4

Status: Open.

#577 In exomiser/Exomiser;

· paolomaccallini-hub opened on Nov 5, 2024

No known disease

Status: Open.

#576 In exomiser/Exomiser;

· pnrobinson opened on Oct 16, 2024

Phasing using Gnomad data

Status: Open.

#575 In exomiser/Exomiser;

· damiansm opened on Oct 7, 2024

Exomiser Cli Version 14.00 Distroless Internal Singularity Path

Status: Open.

#572 In exomiser/Exomiser;

· yr542 opened on Sep 25, 2024

Output CADD Phred Score instead of CADD raw score

Status: Open.

#569 In exomiser/Exomiser;

· rfarhad opened on Sep 11, 2024

Update CLI to use JCommander

Status: Open.

#568 In exomiser/Exomiser;

· julesjacobsen opened on Sep 9, 2024

 ·  

15.0.0

CADD score normalization

Status: Open.

#566 In exomiser/Exomiser;

· icooperstein opened on Aug 27, 2024

Mode of inheretance pedigree

Status: Open.

#564 In exomiser/Exomiser;

· bioinfogit opened on Jul 14, 2024