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Merge pull request #63 from monarch-initiative/small_tweaks_for_usabi…
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Update README with details to emit only JSON (not JSON and HTML) to save disk space
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yaseminbridges authored Aug 27, 2024
2 parents 12e0821 + 7193594 commit f6d5344
Showing 1 changed file with 4 additions and 2 deletions.
6 changes: 4 additions & 2 deletions README.md
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Expand Up @@ -57,6 +57,8 @@ The analysis configuration file (in this case: `preset-exome-analysis.yml`) shou

The whitelist paths for the hg19 and hg38 dbs need only be specified for Exomiser v13.3.0 and earlier (unless specifying your own whitelist), as Exomiser v14.0.0 now includes this in the db.

To save on diskspace we recommend limiting the Exomiser output to JSON, this can be specified by setting the `output_formats` field in the `config.yaml` to [JSON]

If using optional databases, such as REMM/CADD/local frequency the optional data input should look like so in the input
directory:

Expand Down Expand Up @@ -119,7 +121,7 @@ The overall structure of the input directory should look like this with the cadd
```
### Setting up the testdata directory

The Exomiser plugin for PhEval accepts phenopackets and vcf files as an input for running Exomiser. The plugin can be run in `phenotype_only` mode, where only phenopackets are required as an input, however, this *must* be specified in the `config.yaml`.
The Exomiser plugin for PhEval accepts phenopackets and vcf files as an input for running Exomiser. The plugin can be run in `phenotype_only` mode, where only phenopackets are required as an input, however, this *must* be specified in the `config.yaml` by setting `variant_analysis: False`

The testdata directory should include subdirectories named `phenopackets` and `vcf` if running with variant prioritisation.

Expand Down Expand Up @@ -158,4 +160,4 @@ To fix the error, `setuptools` needs to be downgraded to version 66:
```shell
pip uninstall setuptools
pip install -U setuptools=="66"
```
```

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