Prototype app to run the Exomiser with Phenopackets. To run this app, export Phenopackets using the menu of HpoCaseAnnotator (currently 110) or provide your own Phenopacket. We use a template VCF file (e.g. project.NIST.hc.snps.indels.NIST7035.vcf) to which we will add a mutation.
Download Exomiser and exomiser data.
Run as follows
$ java -jar ExomiserSim.java -p sample.phenopacket \
-v template.vcf \
--exomiser /path/to/exomiser-11.0.0.jar
Note that and application.properties lives in the same directory as exomiser-11.0.0.jar.
The application.properties must be adjusted to point
to the Exomiser data.