Supported Applications
Exomiser
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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.
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Installation
Use the following command to install this title with the CLI client:$ biogrids-cli install exomiser
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Keywords
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Default Versions
Linux 64:  10.0.1
OS X INTEL:  10.0.1 -
Other Versions
Linux 64:
10.0.0