Interpretation of biological experiments changes with evolution of the Gene Ontology and its annotations

• DOI: 10.1038/s41598-018-23395-2
• Publication Date: 2018-03-29T01:32:37Z
• Authors: Aurelie Tomczak; Jonathan M. Morte...; Rainer Winnenburg; Charles Liu; Dominique T. Alessi; Varsha Swamy; Francesco Vallania; Shane Lofgren; Winston Haynes; Nigam H. Shah; Mark A. Musen; Purvesh Khatri
• Keywords: 0301 basic medicine; 0303 health sciences; Models, Genetic; Science; Q; R; Computational Biology; Reproducibility of Results; Molecular Sequence Annotation; Article; Evolution, Molecular; 03 medical and health sciences; Gene Ontology; Databases, Genetic; Medicine; Humans

Abstract Gene Ontology (GO) enrichment analysis is ubiquitously used for interpreting high throughput molecular data and generating hypotheses about underlying biological phenomena of experiments. However, the two building blocks this — ontology annotations evolve rapidly. We gene signatures derived from 104 disease analyses to systematically evaluate how results were affected by evolution GO over a decade. found low consistency between obtained with early more recent versions. Furthermore, there continues be strong annotation bias in where 58% are 16% human genes. Our suggests that may have interpretation possibly reproducibility experiments time. Hence, researchers must exercise caution when should reexamine previous most version.