Exomiser 14.0.0 released! New Java version, new database format, smaller data downloads, more ACMG categories, better reporting... #542

julesjacobsen · 2024-02-29T14:00:30Z

julesjacobsen
Feb 29, 2024
Maintainer

Minimum Java version is now Java 17
Update database format REQUIRES DATABASE VERSION 2402 - these are significantly smaller than the previous versions (~50-60% of previous size) See the GitHub discussions section for details.
Added new GeneBlacklistFilter #457
Add new ClinVar conflicting evidence counts in HTML output #535
Added PS1, PM1, PM5 categories to ACMG assignments
Altered reporting of InheritanceModeFilter to state that the number shown refers to variants rather than genes.
Updated gene constraints to use gnomad v4.0 data.
TSV genes, TSV variants and VCF outputs will only write to a single file where the possible modes of inheritances are now shown together rather than split across separate files.
Fix for issue #531 where the priorityScoreFilter and regulatoryFeatureFilter pass/fail counts were not displayed in the HTML.
Fix for issue #534 where variant frequency and/or pathogenicity annotations are missing in certain run configurations.
Fix for issue #541 where logging to /tmp/spring.log causes clashes in shared user environments.
TSV output column CLINVAR_ALLELE_ID has been changed to CLINVAR_VARIANT_ID to allow easier reference to ClinVar variants.

Full Changelog: 13.3.0...14.0.0

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Exomiser 14.0.0 released! New Java version, new database format, smaller data downloads, more ACMG categories, better reporting... #542

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Exomiser 14.0.0 released! New Java version, new database format, smaller data downloads, more ACMG categories, better reporting... #542

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julesjacobsen Feb 29, 2024 Maintainer

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julesjacobsen
Feb 29, 2024
Maintainer