Article

Pathway-based, reaction-specific annotation of disease variants for elucidation of molecular phenotypes

2023-10-22

Abstract excerpt

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...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 301fb188-4f92-5abd-b8fe-4ea1d7803035
DOI: 10.1101/2023.10.18.562964

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Pathway-based, reaction-specific annotation of disease variants for elucidation of molecular phenotypesDOI 10.1101/2023.10.18.562964Read

Pathway-based, reaction-specific annotation of disease variants for elucidation of molecular phenotypes.Semantic proximity Read

Literature-driven extraction and computational prediction of causal statements linking genetic variants to biological processes, pathways and phenotypes.Semantic proximity Read

Leveraging biochemical reactions to unravel functional impacts of cancer somatic variants affecting protein interaction interfacesSemantic proximity Read

Pathway databases: making chemical and biological sense of the genomic data flood.Semantic proximity Read

Biochemical pathways represented by Gene Ontology-Causal Activity Models identify distinct phenotypes resulting from mutations in pathways.Semantic proximity Read

Annotating Cancer Variants and Anti-Cancer Therapeutics in ReactomeSemantic proximity Read

Using the Reactome Graph Database to generate pathway fingerprints for cancer-related genes, and using the fingerprints to gain insights into cancer, comorbidity, and cancer gene networks.Semantic proximity Read

Tissue-aware interpretation of genetic variants advances the etiology of rare diseases.Semantic proximity Read

Biochemical Pathways Represented by Gene Ontology Causal Activity Models Identify Distinct Phenotypes Resulting from Mutations in PathwaysSemantic proximity Read

Correlations Between Phenotypes and Biological Process Ontologies in Monogenic Human Diseases.Semantic proximity Read

MecCog: A knowledge representation framework for genetic disease mechanismSemantic proximity Read

Network properties of genes harboring inherited disease mutations.Semantic proximity Read