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Exomiser

  • Description

    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 prioritize likely causative variants 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.

  • Installation

    Use the following command to install this title with the CLI client: $ biogrids-cli install exomiser Copy to clipboard Available operating systems: Linux 64, OS X INTEL

  • Keywords

    Genome Annotation, Genomics, Genotype-Phenotype Analysis

  • Default Versions

    Linux 64:  10.0.1 (209.6 MB)
    OS X INTEL:  10.0.1 (209.5 MB)

  • Other Versions

      Linux 64:

      10.0.0 (209.4 MB)

    • OS X INTEL:

    • Common files size: 62.8 GB

  • Developers

    Damian Smedley, Peter N Robinson, Sebastian Köhler

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