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Changes for issue #646 - Update docs and application.properties with correct values.
Delete genome_data_version and phenotype_data_version from conf.py as these never worked
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docs/conf.py

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@@ -60,8 +60,6 @@
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# The short X.Y version
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version = u'15.1.1'
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genome_data_version = u'2602'
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phenotype_data_version = u'2602'
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# The full version, including alpha/beta/rc tags
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release = version
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docs/installation.rst

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@@ -51,9 +51,9 @@ Before you begin, here are a few terms used throughout this guide:
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Exomiser where your data files are stored and which versions to use.
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You will edit this file as part of setup.
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- **Data version (e.g. 2512):** Exomiser data files are released
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- **Data version (e.g. 2602):** Exomiser data files are released
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periodically. The number refers to the year and month of release
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(e.g. 2512 = February 2024). Your ``application.properties`` must
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(e.g. 2602 = February 2026). Your ``application.properties`` must
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reference the version you downloaded.
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@@ -82,43 +82,43 @@ and install 7-Zip from http://www.7-zip.org before proceeding.
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**Step 2: Download the files**
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Go to https://github.com/exomiser/Exomiser/releases/latest and download:
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- ``exomiser-cli-|version|-distribution.zip`` (the program)
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- ``2512_phenotype.zip`` (required for all analyses)
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- ``2512_hg19.zip`` and/or ``2512_hg38.zip`` (download whichever matches
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- exomiser-cli-\ |version|\-distribution.zip (the program)
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- 2602_phenotype.zip (required for all analyses)
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- 2602_hg19.zip and/or 2602_hg38.zip (download whichever matches
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your VCF file; download both if unsure)
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**Step 3: Extract the program**
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Right-click ``exomiser-cli-|version|-distribution.zip`` and choose
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Right-click exomiser-cli-\ |version|\-distribution.zip and choose
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**7-Zip > Extract Here**. This will create a folder called
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``exomiser-cli-|version|`` in the same location.
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exomiser-cli-\ |version|\ in the same location.
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**Step 4: Extract the data files**
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Right-click each data ``.zip`` file (e.g. ``2512_phenotype.zip``,
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``2512_hg19.zip``) and choose **7-Zip > Extract files...**. Extract them
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into the ``data`` subfolder inside your Exomiser folder, e.g.:
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Right-click each data .zip file (e.g. 2602_phenotype.zip,
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2602_hg19.zip) and choose **7-Zip > Extract files...**. Extract them
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into the data/ subfolder inside your Exomiser folder, e.g.:
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.. parsed-literal::
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exomiser-cli-\ |version|\/data
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**Step 5: Configure application.properties**
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Open the file ``exomiser-cli-|version|\application.properties`` in a text
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Open the file exomiser-cli-|version|\application.properties in a text
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editor (e.g. Notepad). Find the data version lines and make sure they match
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the version you downloaded (e.g. ``2512``):
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the version you downloaded (e.g. 2602):
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.. code-block:: properties
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exomiser.hg19.data-version=2512
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exomiser.phenotype.data-version=2512
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exomiser.hg19.data-version=2602
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exomiser.phenotype.data-version=2602
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If you downloaded hg38 instead of (or as well as) hg19, also add or update:
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.. code-block:: properties
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exomiser.hg38.data-version=2512
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exomiser.hg38.data-version=2602
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Save the file.
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@@ -150,15 +150,15 @@ internet speed.
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# Download the data files (large — allow several hours)
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# If you only need one genome assembly, download only the relevant file.
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wget https://g-879a9f.f5dc97.75bc.dn.glob.us/data/2512_phenotype.zip
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wget https://g-879a9f.f5dc97.75bc.dn.glob.us/data/2512_hg38.zip
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wget https://g-879a9f.f5dc97.75bc.dn.glob.us/data/2512_hg19.zip
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wget https://g-879a9f.f5dc97.75bc.dn.glob.us/data/2602_phenotype.zip
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wget https://g-879a9f.f5dc97.75bc.dn.glob.us/data/2602_hg38.zip
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wget https://g-879a9f.f5dc97.75bc.dn.glob.us/data/2602_hg19.zip
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# Extract the program
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unzip exomiser-cli-\ |version|\-distribution.zip
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# Extract the data files into the data subdirectory
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unzip 2512_*.zip -d exomiser-cli-\ |version|\/data
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unzip 2602_*.zip -d exomiser-cli-\ |version|\/data
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# Navigate into the Exomiser folder
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cd exomiser-cli-\ |version|
@@ -170,14 +170,14 @@ and confirm the data version lines match what you downloaded:
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.. code-block:: properties
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exomiser.hg19.data-version=2512
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exomiser.phenotype.data-version=2512
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exomiser.hg19.data-version=2602
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exomiser.phenotype.data-version=2602
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Add or update the hg38 line if you downloaded that assembly:
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.. code-block:: properties
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exomiser.hg38.data-version=2512
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exomiser.hg38.data-version=2602
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Save and close the file.
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@@ -246,34 +246,34 @@ Your data directory should look something like this (using ``tree -L 1 /data/exo
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.. code-block:: bash
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/data/exomiser-data/
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├── 2512_hg19
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├── 2512_hg38
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└── 2512_phenotype
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├── 2602_hg19
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├── 2602_hg38
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└── 2602_phenotype
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A minimal ``application.properties`` for hg19 exome analysis:
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.. code-block:: properties
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exomiser.data-directory=/data/exomiser-data
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exomiser.hg19.data-version=2512
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exomiser.phenotype.data-version=2512
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exomiser.hg19.data-version=2602
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exomiser.phenotype.data-version=2602
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For hg38 only:
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.. code-block:: properties
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exomiser.data-directory=/data/exomiser-data
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exomiser.hg38.data-version=2512
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exomiser.phenotype.data-version=2512
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exomiser.hg38.data-version=2602
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exomiser.phenotype.data-version=2602
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For both assemblies:
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.. code-block:: properties
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exomiser.data-directory=/data/exomiser-data
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exomiser.hg19.data-version=2512
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exomiser.hg38.data-version=2512
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exomiser.phenotype.data-version=2512
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exomiser.hg19.data-version=2602
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exomiser.hg38.data-version=2602
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exomiser.phenotype.data-version=2602
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.. note::
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@@ -293,8 +293,8 @@ different configurations without editing the file. For example:
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.. parsed-literal::
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java -Dexomiser.data-directory=/full/path/to/exomiser-data \
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-Dexomiser.hg19.data-version=\ |genome_data_version| \
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-Dexomiser.phenotype.data-version=\ |phenotype_data_version| \
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-Dexomiser.hg19.data-version=2602 \
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-Dexomiser.phenotype.data-version=2602 \
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-jar exomiser-cli-\ |version|\.jar analyse --sample examples/pfeiffer-phenopacket.yml
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Command-line settings take priority over ``application.properties``.
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.. code-block:: bash
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export JAVA_TOOL_OPTIONS="-Dexomiser.data-directory=/full/path/to/exomiser-data -Dexomiser.hg38.data-version=2512"
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export JAVA_TOOL_OPTIONS="-Dexomiser.data-directory=/full/path/to/exomiser-data -Dexomiser.hg38.data-version=2602"
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Alternatively, Exomiser will recognise exomiser-specific environment variables, as named in the
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``application.properties`` file e.g.
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**Exomiser cannot find data files**
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Double-check that the version numbers in ``application.properties``
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(e.g. ``exomiser.hg19.data-version=2512``) exactly match the folder names
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in your data directory (e.g. ``2512_hg19``). Even a small mismatch will
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(e.g. ``exomiser.hg19.data-version=2602``) exactly match the folder names
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in your data directory (e.g. ``2602_hg19``). Even a small mismatch will
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cause Exomiser to fail.
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**Analysis produces no results**

exomiser-cli/src/main/resources/application.properties

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@@ -42,7 +42,7 @@ exomiser.hg19.data-version=${genome.data.version}
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# You will require the tsv.gz and tsv.gz.tbi (tabix) file pairs.
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# Un-comment and add the full path to the relevant tsv.gz files if you want to enable these.
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#exomiser.hg19.cadd-snv-path=${exomiser.data-directory}/cadd/${cadd.version}/hg19/whole_genome_SNVs.tsv.gz
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#exomiser.hg19.cadd-in-del-path=${exomiser.data-directory}/cadd/${cadd.version}/hg19/InDels.tsv.gz
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#exomiser.hg19.cadd-in-del-path=${exomiser.data-directory}/cadd/${cadd.version}/hg19/gnomad.genomes-exomes.r4.0.indel.tsv.gz
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#exomiser.hg19.remm-path=${exomiser.data-directory}/remm/ReMM.v${remm.version}.hg19.tsv.gz
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# local frequencies are required to be normalised in the same manner as the input VCF and frequency values must be percentages.
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#exomiser.hg19.local-frequency-path=${exomiser.data-directory}/local/local_frequency_test_hg19.tsv.gz
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# To enable analysis of samples called against the hg38 assembly copy the hg19 above and just replace the hg19 with hg38
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#exomiser.hg38.data-version=${genome.data.version}
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#exomiser.hg38.cadd-snv-path=${exomiser.data-directory}/cadd/${cadd.version}/whole_genome_SNVs.tsv.gz
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#exomiser.hg38.cadd-in-del-path=${exomiser.data-directory}/cadd/${cadd.version}/InDels.tsv.gz
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#exomiser.hg38.cadd-in-del-path=${exomiser.data-directory}/cadd/${cadd.version}/gnomad.genomes.r4.0.indel.tsv.gz
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#exomiser.hg38.remm-path=${exomiser.data-directory}/remm/ReMM.v${remm.version}.hg38.tsv.gz
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#exomiser.hg38.local-frequency-path=${exomiser.data-directory}/local/local_frequency_test_hg38.tsv.gz
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#exomiser.hg38.variant-white-list-path=${exomiser.hg38.data-version}_hg38_clinvar_whitelist.tsv.gz

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