About us
Learn how GA4GH helps expand responsible genomic data use to benefit human health.
Monarch Initiative
Provides community developed standards and tools to translate data into rare diseases breakthroughs
The Monarch Initiative is an international consortium that integrates knowledge using ontologies and AI, promoting an open ecosystem of multi-modal phenotyping data and standards to accelerate rare disease diagnostics, treatment discovery, and clinical decision support. Monarch has led the development of Phenopackets, the Mondo Disease Ontology (a GA4GH endorsed standard), and other standards such as LinkML that can aid standards development.
Location
International
Thematic Area
Champions
- Matt Brush
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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.