Article
Biochemical pathways represented by Gene Ontology-Causal Activity Models identify distinct phenotypes resulting from mutations in pathways.
Genetics - 4 Oct 2023
Hill David P, Drabkin Harold J, Smith Cynthia L, Van Auken Kimberly M, D'Eustachio Peter
Abstract excerpt
Gene inactivation can affect the process(es) in which that gene acts and causally downstream ones, yielding diverse mutant phenotypes. Identifying the genetic pathways resulting in a given phenotype helps us understand how individual genes interact in a functional network. Computable representations of biological pathways include detailed process descriptions in the Reactome Knowledgebase and causal activity...
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