Monarch Initiative

Provides a platform for connecting phenotypes to genotypes across species

The Monarch Initiative bridges the space between basic and applied research. Using semantic-based analysis, the group focuses on harmonising and sharing phenotypes across organisms, facilitating clinical phenotyping and diagnostics. The Monarch team’s expertise has been crucial in the development of GA4GH standards. Monarch leads development of the Human Phenotype Ontology for diagnosing genetic diseases and the Mondo unified disease ontology.

Monarch Initiative information
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GA4GH implementations

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The Exomiser

The Exomiser is a Java program that functionally annotates variants from whole-exome-sequencing data in VCF v4.0 format. The functional annotation is performed with Jannovar and uses UCSC KnownGene transcript definitions and hg19 genomic coordinates.