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Update pom.xml genome.data.version and phenotype.data.version propert…
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Update cli, prioritiser and web application.properties to use project data.version properties
Update exomiser-cli README.md Java version.
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julesjacobsen committed Nov 13, 2024
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13 changes: 7 additions & 6 deletions exomiser-cli/README.md
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# <a id="the-exomiser"></a>The Exomiser - A Tool to Annotate and Prioritize Disease Variants: Command Line Executable

The Exomiser is a tool to perform genome-wide prioritisation of genomic variants including non-coding and regulatory variants using patient phenotypes as a means of differentiating candidate genes.
The Exomiser is a tool to perform genome-wide prioritisation of genomic variants including non-coding and regulatory
variants using patient phenotypes as a means of differentiating candidate genes.

To perform an analysis, Exomiser requires the patient's genome/exome in VCF format and their phenotype encoded in HPO
terms. The exomiser is also capable of analysing trios/small family genomes, so long as a pedigree in PED format is also
Expand All @@ -25,7 +26,7 @@ Further information can be found in the [online documentation](https://exomiser.
- For exome analysis of a 30,000 variant sample 4GB RAM should suffice.
- For genome analysis of a 4,400,000 variant sample 12GB RAM should suffice.
- Any 64-bit operating system
- Java 11 or above
- Java 17 or above
- At least 50GB free disk space (SSD preferred for best performance)
- An internet connection is not required to run the Exomiser, although network access will be required if accessing a
networked database (optional).
Expand Down Expand Up @@ -121,7 +122,7 @@ See the test-analysis-exome.yml and test-analysis-genome.yml files located in th

java -Xmx4g -jar exomiser-cli-${project.version}.jar --analysis examples/test-analysis-exome.yml

These files an also be used to run full-genomes, however they will require substantially more RAM to do so. For example
These files can also be used to run full-genomes, however they will require substantially more RAM to do so. For example
a 4.4 million variant analysis requires approximately 12GB RAM. However, RAM requirements can be greatly reduced by
setting the analysisMode option to PASS_ONLY. This will also aid your ability to evaluate the results.

Expand All @@ -147,7 +148,7 @@ If you get the following error message:
Exception in thread "main" java.lang.UnsupportedClassVersionError:
org/monarchinitiative/exomiser/cli/Main : Unsupported major.minor version

You are running an older unsupported version of Java. Exomiser requires java version 11 or higher. This can be checked
You are running an older unsupported version of Java. Exomiser requires Java version 17 or higher. This can be checked
by running:

java -version
Expand All @@ -158,8 +159,8 @@ You should see something like this in response:
OpenJDK Runtime Environment (build 11.0.11+9-Ubuntu-0ubuntu2.20.04)
OpenJDK 64-Bit Server VM (build 11.0.11+9-Ubuntu-0ubuntu2.20.04, mixed mode, sharing)

versions lower than 11 (e.g. 1.5, 1.6, 1.7, 1.8, 9, 10) will not run exomiser, so you will need to install the latest
java version.
versions lower than 17 (e.g. 1.5, 1.6, 1.7, 1.8, 9, 10, 11...) will not run exomiser, so you will need to install the latest
LTS Java version. We recommend using the Eclipse Temurin Java releases which you can find here: https://adoptium.net/

### Zip file reported as too big or corrupted

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12 changes: 6 additions & 6 deletions exomiser-cli/src/main/resources/application.properties
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Expand Up @@ -35,7 +35,7 @@ remm.version=0.3.1.post1
cadd.version=1.4

### hg19 assembly ###
exomiser.hg19.data-version=2402
exomiser.hg19.data-version=${genome.data.version}
# transcript source will default to ensembl. Can define as ucsc/ensembl/refseq
#exomiser.hg19.transcript-source=ensembl
# location of CADD/REMM Tabix files - you will need these for analysis of non-coding variants.
Expand All @@ -47,22 +47,22 @@ exomiser.hg19.data-version=2402
# local frequencies are required to be normalised in the same manner as the input VCF and frequency values must be percentages.
#exomiser.hg19.local-frequency-path=${exomiser.data-directory}/local/local_frequency_test_hg19.tsv.gz
#exomiser.hg19.variant-white-list-path=${exomiser.hg19.data-version}_hg19_clinvar_whitelist.tsv.gz
#exomiser.hg19.clin-var-data-version=2402
#exomiser.hg19.clin-var-data-version=${genome.data.version}
#exomiser.hg19.use-clinvar-white-list=true

### hg38 assembly ###
# To enable analysis of samples called against the hg38 assembly copy the hg19 above and just replace the hg19 with hg38
#exomiser.hg38.data-version=2402
#exomiser.hg38.data-version=${genome.data.version}
#exomiser.hg38.cadd-snv-path=${exomiser.data-directory}/cadd/${cadd.version}/whole_genome_SNVs.tsv.gz
#exomiser.hg38.cadd-in-del-path=${exomiser.data-directory}/cadd/${cadd.version}/InDels.tsv.gz
#exomiser.hg38.remm-path=${exomiser.data-directory}/remm/ReMM.v${remm.version}.hg38.tsv.gz
#exomiser.hg38.local-frequency-path=${exomiser.data-directory}/local/local_frequency_test_hg38.tsv.gz
#exomiser.hg38.variant-white-list-path=${exomiser.hg38.data-version}_hg38_clinvar_whitelist.tsv.gz
#exomiser.hg38.clin-var-data-version=2402
#exomiser.hg38.clin-var-data-version=${genome.data.version}
#exomiser.hg38.use-clinvar-white-list=true

### phenotypes ###
exomiser.phenotype.data-version=2402
exomiser.phenotype.data-version=${phenotype.data.version}
#exomiser.phenotype.data-directory=${exomiser.data-directory}/${exomiser.phenotype.data-version}_phenotype
# String random walk data file
#exomiser.phenotype.random-walk-file-name=rw_string_10.mv
Expand All @@ -81,4 +81,4 @@ exomiser.phenotype.data-version=2402
### logging ###
# Logging is highly configurable - see https://docs.spring.io/spring-boot/docs/current/reference/html/features.html#features.logging.file-output
#logging.file.name=logs/exomiser.log
logging.level.com.zaxxer.hikari=ERROR
logging.level.com.zaxxer.hikari=ERROR ${java.version}
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Expand Up @@ -25,7 +25,7 @@ server.servlet.application-display-name=Exomiser Prioritiser Server

#Absolute system path where the exomiser data is installed
exomiser.data-directory=${project.build.testOutputDirectory}
exomiser.phenotype.data-version=1707
exomiser.phenotype.data-version=${phenotype.data.version}
exomiser.phenotype.random-walk-preload=true

#Actuator configuration
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4 changes: 2 additions & 2 deletions exomiser-web/src/main/resources/application.properties
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Expand Up @@ -44,7 +44,7 @@ exomiser.web.max-genes=30
exomiser.web.clinical-instance=false
# Configure the Exomiser properties - use the exomiser-cli application.properties as a template
exomiser.data-directory=${data.dir}
#exomiser.hg19.data-version=2109
#exomiser.hg19.data-version=${genome.data.version}
#exomiser.hg19.variant-white-list-path=${exomiser.hg19.data-version}_hg19_clinvar_whitelist.tsv.gz
#exomiser.phenotype.data-version=2109
#exomiser.phenotype.data-version=${phenotype.data.version}
exomiser.phenotype.random-walk-preload=true
6 changes: 3 additions & 3 deletions pom.xml
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Expand Up @@ -109,9 +109,9 @@
</docker.base.image>
<docker.registry>docker.io</docker.registry>
<docker.repository>exomiser</docker.repository>
<!-- These properties are use for the README.md -->
<genome.data.version>2402</genome.data.version>
<phenotype.data.version>2402</phenotype.data.version>
<!-- These properties are used for the README.md and updating the application.properties -->
<genome.data.version>2410</genome.data.version>
<phenotype.data.version>2410</phenotype.data.version>
</properties>

<dependencyManagement>
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