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Enter CAGI 7 RGP challenge

Status: Open.

#601 In exomiser/Exomiser;

· julesjacobsen opened on Jun 11, 2025

Add VUS tiering

Status: Open.

#600 In exomiser/Exomiser;

· julesjacobsen opened on Jun 11, 2025

Add VariantMatcher links to HTML output

Status: Open.

#599 In exomiser/Exomiser;

· julesjacobsen opened on Jun 11, 2025

gnomad FIN In The <code>YML</code> But Not In The <code>HTML</code> Output For Exomiser Reference Version 2502 and Exomiser CLI Version 14.1.0

Status: Open.

#598 In exomiser/Exomiser;

· yr542 opened on Apr 30, 2025

CoordinatesOutOfBoundsException: Contig bounds errors

Status: Open.

#597 In exomiser/Exomiser;

· poddarharsh15 opened on Apr 28, 2025

Inquiring About Exomiser Usage Issues

Status: Open.

#595 In exomiser/Exomiser;

· yuan-bot1 opened on Apr 2, 2025

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