@@ -51,9 +51,9 @@ Before you begin, here are a few terms used throughout this guide:
5151 Exomiser where your data files are stored and which versions to use.
5252 You will edit this file as part of setup.
5353
54- - **Data version (e.g. 2512 ): ** Exomiser data files are released
54+ - **Data version (e.g. 2602 ): ** Exomiser data files are released
5555 periodically. The number refers to the year and month of release
56- (e.g. 2512 = February 2024 ). Your ``application.properties `` must
56+ (e.g. 2602 = February 2026 ). Your ``application.properties `` must
5757 reference the version you downloaded.
5858
5959
@@ -82,43 +82,43 @@ and install 7-Zip from http://www.7-zip.org before proceeding.
8282**Step 2: Download the files **
8383Go to https://github.com/exomiser/Exomiser/releases/latest and download:
8484
85- - `` exomiser-cli-|version|-distribution.zip `` (the program)
86- - `` 2512_phenotype .zip`` (required for all analyses)
87- - `` 2512_hg19 .zip`` and/or `` 2512_hg38 .zip`` (download whichever matches
85+ - exomiser-cli-\ |version |\ - distribution.zip (the program)
86+ - 2602_phenotype .zip (required for all analyses)
87+ - 2602_hg19 .zip and/or 2602_hg38 .zip (download whichever matches
8888 your VCF file; download both if unsure)
8989
9090**Step 3: Extract the program **
9191
92- Right-click `` exomiser-cli-|version|-distribution.zip `` and choose
92+ Right-click exomiser-cli-\ |version |\ - distribution.zip and choose
9393**7-Zip > Extract Here **. This will create a folder called
94- `` exomiser-cli-|version| `` in the same location.
94+ exomiser-cli-\ |version |\ in the same location.
9595
9696**Step 4: Extract the data files **
9797
98- Right-click each data `` .zip `` file (e.g. `` 2512_phenotype .zip`` ,
99- `` 2512_hg19 .zip`` ) and choose **7-Zip > Extract files... **. Extract them
100- into the `` data `` subfolder inside your Exomiser folder, e.g.:
98+ Right-click each data .zip file (e.g. 2602_phenotype .zip,
99+ 2602_hg19 .zip) and choose **7-Zip > Extract files... **. Extract them
100+ into the data/ subfolder inside your Exomiser folder, e.g.:
101101
102102.. parsed-literal ::
103103
104104 exomiser-cli-\ |version |\/ data
105105
106106 **Step 5: Configure application.properties **
107107
108- Open the file `` exomiser-cli-|version|\application.properties `` in a text
108+ Open the file exomiser-cli-|version |\a pplication.properties in a text
109109editor (e.g. Notepad). Find the data version lines and make sure they match
110- the version you downloaded (e.g. `` 2512 `` ):
110+ the version you downloaded (e.g. 2602 ):
111111
112112.. code-block :: properties
113113
114- exomiser.hg19.data-version=2512
115- exomiser.phenotype.data-version=2512
114+ exomiser.hg19.data-version=2602
115+ exomiser.phenotype.data-version=2602
116116
117117 If you downloaded hg38 instead of (or as well as) hg19, also add or update:
118118
119119.. code-block :: properties
120120
121- exomiser.hg38.data-version=2512
121+ exomiser.hg38.data-version=2602
122122
123123 Save the file.
124124
@@ -150,15 +150,15 @@ internet speed.
150150
151151 # Download the data files (large — allow several hours)
152152 # If you only need one genome assembly, download only the relevant file.
153- wget https://g-879a9f.f5dc97.75bc.dn.glob.us/data/2512_phenotype .zip
154- wget https://g-879a9f.f5dc97.75bc.dn.glob.us/data/2512_hg38 .zip
155- wget https://g-879a9f.f5dc97.75bc.dn.glob.us/data/2512_hg19 .zip
153+ wget https://g-879a9f.f5dc97.75bc.dn.glob.us/data/2602_phenotype .zip
154+ wget https://g-879a9f.f5dc97.75bc.dn.glob.us/data/2602_hg38 .zip
155+ wget https://g-879a9f.f5dc97.75bc.dn.glob.us/data/2602_hg19 .zip
156156
157157 # Extract the program
158158 unzip exomiser-cli-\ |version |\- distribution.zip
159159
160160 # Extract the data files into the data subdirectory
161- unzip 2512_ *.zip -d exomiser-cli-\ |version |\/ data
161+ unzip 2602_ *.zip -d exomiser-cli-\ |version |\/ data
162162
163163 # Navigate into the Exomiser folder
164164 cd exomiser-cli-\ |version |
@@ -170,14 +170,14 @@ and confirm the data version lines match what you downloaded:
170170
171171.. code-block :: properties
172172
173- exomiser.hg19.data-version=2512
174- exomiser.phenotype.data-version=2512
173+ exomiser.hg19.data-version=2602
174+ exomiser.phenotype.data-version=2602
175175
176176 Add or update the hg38 line if you downloaded that assembly:
177177
178178.. code-block :: properties
179179
180- exomiser.hg38.data-version=2512
180+ exomiser.hg38.data-version=2602
181181
182182 Save and close the file.
183183
@@ -246,34 +246,34 @@ Your data directory should look something like this (using ``tree -L 1 /data/exo
246246.. code-block :: bash
247247
248248 /data/exomiser-data/
249- ├── 2512_hg19
250- ├── 2512_hg38
251- └── 2512_phenotype
249+ ├── 2602_hg19
250+ ├── 2602_hg38
251+ └── 2602_phenotype
252252
253253 A minimal ``application.properties `` for hg19 exome analysis:
254254
255255.. code-block :: properties
256256
257257 exomiser.data-directory=/data/exomiser-data
258- exomiser.hg19.data-version=2512
259- exomiser.phenotype.data-version=2512
258+ exomiser.hg19.data-version=2602
259+ exomiser.phenotype.data-version=2602
260260
261261 For hg38 only:
262262
263263.. code-block :: properties
264264
265265 exomiser.data-directory=/data/exomiser-data
266- exomiser.hg38.data-version=2512
267- exomiser.phenotype.data-version=2512
266+ exomiser.hg38.data-version=2602
267+ exomiser.phenotype.data-version=2602
268268
269269 For both assemblies:
270270
271271.. code-block :: properties
272272
273273 exomiser.data-directory=/data/exomiser-data
274- exomiser.hg19.data-version=2512
275- exomiser.hg38.data-version=2512
276- exomiser.phenotype.data-version=2512
274+ exomiser.hg19.data-version=2602
275+ exomiser.hg38.data-version=2602
276+ exomiser.phenotype.data-version=2602
277277
278278 .. note ::
279279
@@ -293,8 +293,8 @@ different configurations without editing the file. For example:
293293.. parsed-literal ::
294294
295295 java -Dexomiser.data-directory=/full/path/to/exomiser-data \
296- -Dexomiser.hg19.data-version=\ | genome_data_version | \
297- -Dexomiser.phenotype.data-version=\ | phenotype_data_version | \
296+ -Dexomiser.hg19.data-version=2602 \
297+ -Dexomiser.phenotype.data-version=2602 \
298298 -jar exomiser-cli-\ |version |\. jar analyse --sample examples/pfeiffer-phenopacket.yml
299299
300300 Command-line settings take priority over ``application.properties ``.
@@ -304,7 +304,7 @@ with the JAVA_TOOL_OPTIONS environment variable e.g.
304304
305305.. code-block :: bash
306306
307- export JAVA_TOOL_OPTIONS=" -Dexomiser.data-directory=/full/path/to/exomiser-data -Dexomiser.hg38.data-version=2512 "
307+ export JAVA_TOOL_OPTIONS=" -Dexomiser.data-directory=/full/path/to/exomiser-data -Dexomiser.hg38.data-version=2602 "
308308
309309 Alternatively, Exomiser will recognise exomiser-specific environment variables, as named in the
310310``application.properties `` file e.g.
@@ -484,8 +484,8 @@ allocation by raising the ``-Xmx`` value. For genome analysis, try
484484 **Exomiser cannot find data files **
485485
486486Double-check that the version numbers in ``application.properties ``
487- (e.g. ``exomiser.hg19.data-version=2512 ``) exactly match the folder names
488- in your data directory (e.g. ``2512_hg19 ``). Even a small mismatch will
487+ (e.g. ``exomiser.hg19.data-version=2602 ``) exactly match the folder names
488+ in your data directory (e.g. ``2602_hg19 ``). Even a small mismatch will
489489cause Exomiser to fail.
490490
491491**Analysis produces no results **
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