Pathway-based, reaction-specific annotation of disease variants for elucidation of molecular phenotypes
Marija Orlic-Milacic,
Karen Rothfels,
Lisa Matthews
et al.
Abstract:Disease variant annotation in the context of biological reactions and pathways can provide a standardized overview of molecular phenotypes of pathogenic mutations that is amenable to computational mining and mathematical modeling. Reactome, an open source, manually curated, peer-reviewed database of human biological pathways, provides annotations for over 4000 disease variants of close to 400 genes in the context of ~800 disease reactions constituting ~400 disease pathways. Functional annotation of disease var… Show more
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