exomiser / exomiser-demo

Demo exomiser application

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Exomiser Demo Application

This is a simple Spring Boot app to demonstrate how to set-up and use the Exomiser programmatically from within another Spring application.

To run it:

java -jar exomiser-demo-0.0.1-SNAPSHOT.jar --exomiser.data-directory=/home/user/exomiser-dir/data

The application simply reads the file specified by the vcf path parameter, performs a Phive analysis according to the supplied phenotypes and returns the results in the specified format. In a browser you can then visit:

http://localhost:8080/analyse/?vcf=/home/user/Pfeiffer.vcf&phenotypes=HP:0001156,HP:0001363,HP:0011304,HP:0010055&format=HTML

or you can curl the results in VCF, TSV_GENE or TSV_VARIANT flatfile formats.

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Demo exomiser application


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