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exomiser-cli/CHANGELOG.md

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# The Exomiser Command Line Executable - Changelog
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# The Exomiser Command Line Interface - Changelog
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## 15.0.0 2026-02-28
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[![Rare Disease Day](https://www.rarediseaseday.org/wp-content/uploads/Rare-disease-day-logo.svg
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)](https://www.rarediseaseday.org)
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- Minimum Java version is now **Java 21**
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- The CLI is now handled by PicoCLI and has new `analyse` and `batch` commands.
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- The `analyse` command works with the same options as before, but will fail before loading resources if no samples have been provided in the command input.
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- The `batch` command replaces the `--batch` option and now has a `--dry-run` option to check the input commands and samples before running and will write out an error file.
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Run `exomiser --help` for details or see the docs about how to migrate your scripts. However, the snippet below should be enough to get you started:
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```shell
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# Running the `analyse` command:
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## Exomiser < 15.0.0
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java -jar exomiser-cli-14.1.0.jar --analysis examples/exome-analysis.yml --output-directory exomiser-results/exome-analysis --output-format HTML
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# Exomiser 15.0.0
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java -jar exomiser-cli-15.0.0.jar analyse --analysis examples/exome-analysis.yml --output-directory exomiser-results/exome-analysis --output-format HTML
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# Running the `batch` command:
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## Exomiser < 15.0.0
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java -jar exomiser-cli-14.1.0.jar --batch examples/test-analysis-batch-commands.txt
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# Exomiser 15.0.0
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java -jar exomiser-cli-15.0.0.jar batch examples/test-analysis-batch-commands.txt
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```
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- Updated logistic regression model which will take into account the ACMG assignment data which leads to improved accuracy of the results. _!!! WARNING - THIS SIGNIFICANTLY CHANGES THE EXOMISER COMBINED SCORES, SO IF YOU USE ANY CUTOFFS TO FILTER YOUR RESULTS IN YOUR PIPELINE, YOU WILL NEED TO RE-CALIBRATE THEM !!!_.
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- New `alleleBalanceFilter: {}` analysis step to filter variants based on allele balance (see docs for details).
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- Updated `examples/preset-exome-analysis.yml` and `examples/preset-genome-analysis.yml` to use new defaults. _UPDATE YOUR SCRIPTS TO USE THESE FOR IMPROVED ACCURACY_.
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- Added `examples/preset-exome-analysis-human-only.yml`
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- Added `examples/preset-exome-analysis-with-introns.yml`
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- Added `examples/preset-phenotype-only-analysis.yml`
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- New `PARQUET` output file format. This is a much more efficient format for storing results. It is an amalgamation of the `TSV_VARIANT` and `TSV_GENE` data with added fields and should be considered as a replacement for the JSON output.
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- `JSON` output has been replaced with `JSONL` output which is a line-delimited JSON format (https://jsonlines.org/). Note that the file suffix is now `.jsonl` rather than `.json`.
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- New `HTML` output format. This is a much more compact and readable format for displaying results.
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- Fix for issue #621 in `VCF` output where ACMG categories were being concatenated with `,` which broke parsers. These are now replaced with `&`.
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- Removed use of BS4 category in ACMG assignments as this was being applied too stringently, leading to lost diagnoses in DDD cohort.
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- Fixed PM4 assignment to include disruptive_inframe_deletion/insertion variants
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- Updated Exomiser CLI startup configuration to _not_ write the `results` directory to the installation directory by default.
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## 14.1.0 2024-11-14
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exomiser-core/CHANGELOG.md

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# The Exomiser - Core Library Changelog
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## 15.0.0 2026-02-28
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[![Rare Disease Day](https://www.rarediseaseday.org/wp-content/uploads/Rare-disease-day-logo.svg
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)](https://www.rarediseaseday.org)
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- Minimum Java version is now **Java 21**
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API-breaking changes:
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- Overhaul of the entire codebase to migrate to using Java records where possible, which has led to API-breaking changes across the entire codebase where the Java Bean style `Foo.getFoo()` has been refactored to a less 'getty' `Foo.foo()`
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- Changed `JsonResultsWriter` to write results to JSONLines files JOSN files now have the `.jsonl` suffix
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- Moving and re-organising packages in exomiser/core/analysis
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New APIs:
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- Add new `ParquetResultsWriter` class to write results to `.parquet` files
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- Add new `AlleleBalanceFilter`
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Updates:
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- Updated `PathogenicityFilter` to remove non-coding variants with CADD raw < 15.0, SpliceAI score < 0.1 and REMM < 0.914 when `keepNonPathogenic` is set to `false`
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- Overhauled HTML output to use Bootstrap 5 and a (hopefully!) clearer layout.
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- Added a newly trained logistic regression model to the `GeneScorer.calculateCombinedScore()` which includes the Exomiser ACMG assignments in the score.
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- Added `GeneBlackListFilter` and `AlleleBalanceFilter` to `AnalysisPresetBuilder` for both the `buildExomePreset()` and `buildGenomePreset()` methods.
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Bug fixes:
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- Issue [#620](https://github.com/exomiser/Exomiser/issues/620) - Switched VCF INFO `EXOMISER_ACMG_EVIDENCE` delimiter from `,` to `&`
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- Issue [#609](https://github.com/exomiser/Exomiser/issues/609) - Ensure only observed phenotypic features are being imported from the hpoa file.
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- Issue [#588](https://github.com/exomiser/Exomiser/issues/588) - Add missing ALPHA_MISSENSE to preset.yml files
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Other changes:
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- Update protobuf 3.21.12 -> 4.28.2
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- Update spring-boot 33.2.3 -> 3.4.3
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- Update svart 2.0.0-RC6 -> 2.0.0-RC7
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## 14.1.0 2024-11-14
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Further updates to ACMG assignment categories, including implementation of a new AcmgSpliceEvidenceAssigner class which

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