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Diagnostic-grade Exomiser

enhancement

Status: Open.

#159 In exomiser/Exomiser;

· damiansm opened on Nov 29, 2016

Virtual gene panels

Status: Open.

#265 In exomiser/Exomiser;

· damiansm opened on May 18, 2018

Investigate adding ClinGen disease gene validity data

Status: Open.

#451 In exomiser/Exomiser;

· julesjacobsen opened on Sep 25, 2022

Add support for STR prioritisation from ExpansionHunter calls

Status: Open.

#563 In exomiser/Exomiser;

· julesjacobsen opened on Jul 4, 2024

Update JSON output to JSONLines

Status: Open.

#558 In exomiser/Exomiser;

· julesjacobsen opened on Apr 24, 2024

Try VCF assembly check and fail before analysis

Status: Open.

#504 In exomiser/Exomiser;

· julesjacobsen opened on Jul 18, 2023

Enable Short Tandem Repeat prioritisation using ExpansionHunter

Status: Open.

#420 In exomiser/Exomiser;

· julesjacobsen opened on Feb 21, 2022

Sort input phenotype terms

Status: Open.

#517 In exomiser/Exomiser;

· julesjacobsen opened on Sep 11, 2023

Users want to use Exomiser as an annotation tool...

Status: Open.

#498 In exomiser/Exomiser;

· julesjacobsen opened on Jul 3, 2023

Make a quickstart page for the Docs & README

Status: Open.

#602 In exomiser/Exomiser;

· julesjacobsen opened on Jun 19, 2025