What is Gene Ontology (GO)

From a genetic perspective, disease can be interpreted in terms of a variation in molecular sequence or expression (dose) that impairs normal physiological function. To understand thoroughly the knockon effect such pathological changes may have, it is crucial to map out the physiological relationship affected genes maintain with their functional neighbors. The goal of the Reactome project is to build such a network knowledgebase for all human genes. Constructing a map of such extent and scope requires a considerable range of expertise, so this project collaborates with field experts to integrate their pathway knowledge into a single quality-checked human model. This resource dataset is systematically cross-referenced to major molecular and literature databases, and is accessible to the community in a number of well-established formats. As an evolving network systems resource, Reactome is also starting to provide increasingly powerful and robust tools to investigate tissue-specific biology and steer targeted drug design.