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Merge pull request #204 from exomiser/drseb-patch-1
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Fix URL for HPO
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julesjacobsen authored Jun 12, 2017
2 parents 7af6084 + 49fb2dd commit b928847
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Expand Up @@ -5,7 +5,7 @@ The Exomiser - A Tool to Annotate and Prioritize Exome Variants

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](http://www.human-phenotype-ontology.or) (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.
Starting from a VCF file and a set of phenotypes encoded using the [Human Phenotype Ontology](http://www.human-phenotype-ontology.org) (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.

The functional annotation of variants is handled by [Jannovar](https://github.com/charite/jannovar) and uses [UCSC](http://genome.ucsc.edu) KnownGene transcript definitions and hg19 genomic coordinates.

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