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1 | | -# The Exomiser Command Line Executable - Changelog |
| 1 | +# The Exomiser Command Line Interface - Changelog |
| 2 | + |
| 3 | +## 15.0.0 2026-02-28 |
| 4 | +[](https://www.rarediseaseday.org) |
| 6 | +- Minimum Java version is now **Java 21** |
| 7 | +- The CLI is now handled by PicoCLI and has new `analyse` and `batch` commands. |
| 8 | + - 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. |
| 9 | + - 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. |
| 10 | + |
| 11 | + 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: |
| 12 | + ```shell |
| 13 | + # Running the `analyse` command: |
| 14 | + ## Exomiser < 15.0.0 |
| 15 | + java -jar exomiser-cli-14.1.0.jar --analysis examples/exome-analysis.yml --output-directory exomiser-results/exome-analysis --output-format HTML |
| 16 | + # Exomiser 15.0.0 |
| 17 | + java -jar exomiser-cli-15.0.0.jar analyse --analysis examples/exome-analysis.yml --output-directory exomiser-results/exome-analysis --output-format HTML |
| 18 | + |
| 19 | + # Running the `batch` command: |
| 20 | + ## Exomiser < 15.0.0 |
| 21 | + java -jar exomiser-cli-14.1.0.jar --batch examples/test-analysis-batch-commands.txt |
| 22 | + # Exomiser 15.0.0 |
| 23 | + java -jar exomiser-cli-15.0.0.jar batch examples/test-analysis-batch-commands.txt |
| 24 | + ``` |
| 25 | + |
| 26 | +- 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 !!!_. |
| 27 | +- New `alleleBalanceFilter: {}` analysis step to filter variants based on allele balance (see docs for details). |
| 28 | +- 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_. |
| 29 | +- Added `examples/preset-exome-analysis-human-only.yml` |
| 30 | +- Added `examples/preset-exome-analysis-with-introns.yml` |
| 31 | +- Added `examples/preset-phenotype-only-analysis.yml` |
| 32 | +- 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. |
| 33 | +- `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`. |
| 34 | +- New `HTML` output format. This is a much more compact and readable format for displaying results. |
| 35 | +- Fix for issue #621 in `VCF` output where ACMG categories were being concatenated with `,` which broke parsers. These are now replaced with `&`. |
| 36 | +- Removed use of BS4 category in ACMG assignments as this was being applied too stringently, leading to lost diagnoses in DDD cohort. |
| 37 | +- Fixed PM4 assignment to include disruptive_inframe_deletion/insertion variants |
| 38 | +- Updated Exomiser CLI startup configuration to _not_ write the `results` directory to the installation directory by default. |
2 | 39 |
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3 | 40 | ## 14.1.0 2024-11-14 |
4 | 41 |
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