Skip to content

Latest commit

 

History

History
21 lines (15 loc) · 682 Bytes

README.rst

File metadata and controls

21 lines (15 loc) · 682 Bytes
Raw

ExomiserSim

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.