Supported Applications

Exomiser

  • Description

    The Exomiser is a Java program that finds potential disease-causing variants from whole-exome or whole-genome sequencing data.

    Starting from a VCF file and a set of phenotypes encoded using the Human Phenotype Ontology (HPO) it will annotate, filter and prioritise likely causative variants. The program does this based on user-defined criteria such as a variant's predicted pathogenicity, frequency of occurrence in a population and also how closely the given phenotype matches the known phenotype of diseased genes from human and model organism data.

Scroll