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Pathway-based, Reaction-Specific Annotation of Disease Variants for Elucidation of Molecular Phenotypes

DATABASE-THE JOURNAL OF BIOLOGICAL DATABASES AND CURATION(2024)

Ontario Inst Canc Res | NYU | European Molecular Biology Laboratory | Oregon Health and Science University

Cited 0|Views39
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 variants proceeds from normal gene functions, through disease variants whose divergence from normal molecular behaviors has been experimentally verified, to extrapolation from molecular phenotypes of characterized variants to variants of unknown significance using criteria of the American College of Medical Genetics and Genomics (ACMG). Reactome's pathway-based, reaction-specific disease variant dataset and data model provide a platform to infer pathway output impacts of numerous human disease variants and model organism orthologs, complementing computational predictions of variant pathogenicity.
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Key words
genome annotation,Gene Annotation,Disease Pathways,Pathway Analysis,Functional Annotations
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