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Identifying functions and phenotypes commonly requires experiments which are time-consuming and expensive to carry out; creating the annotations additionally requires a curator to make an assertion based on reported evidence. Support to validate the mutual consistency of functional and phenotype annotations as well as a computational method to predict phenotypes from function annotations, would greatly improve the utility of function annotations.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>We developed a novel ontology-based method to validate the mutual consistency of function and phenotype annotations. We apply our method to mouse and human annotations, and identify several inconsistencies that can be resolved to improve overall annotation quality. We also apply our method to the rule-based prediction of regulatory phenotypes from functions and demonstrate that we can predict these phenotypes with Fmax of up to 0.647.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Availability and implementation<\/jats:title>\n                    <jats:p>https:\/\/github.com\/bio-ontology-research-group\/phenogocon<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1093\/bioinformatics\/bty605","type":"journal-article","created":{"date-parts":[[2018,7,5]],"date-time":"2018-07-05T21:20:56Z","timestamp":1530825656000},"page":"i857-i865","source":"Crossref","is-referenced-by-count":6,"title":["Ontology-based validation and identification of regulatory phenotypes"],"prefix":"10.1093","volume":"34","author":[{"given":"Maxat","family":"Kulmanov","sequence":"first","affiliation":[{"name":"Computer, Electrical and Mathematical Sciences and Engineering Division, Computational Bioscience Research Centre, King Abdullah University of Science and Technology, Thuwal, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paul N","family":"Schofield","sequence":"additional","affiliation":[{"name":"Department of Physiology, Development and Neuroscience, University of Cambridge, Cambridge, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Georgios V","family":"Gkoutos","sequence":"additional","affiliation":[{"name":"College of Medical and Dental Sciences, Institute of Cancer and Genomic Sciences, Centre for Computational Biology, University of Birmingham, Birmingham, UK"},{"name":"Institute of Translational Medicine, University Hospitals Birmingham, NHS Foundation Trust, Birmingham, UK"},{"name":"NIHR Experimental Cancer Medicine Centre, Birmingham, UK"},{"name":"NIHR Surgical Reconstruction and Microbiology Research Centre, Birmingham, UK"},{"name":"NIHR Biomedical Research Centre, Birmingham, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert","family":"Hoehndorf","sequence":"additional","affiliation":[{"name":"Computer, Electrical and Mathematical Sciences and Engineering Division, Computational Bioscience Research Centre, King Abdullah University of Science and Technology, Thuwal, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2018,9,8]]},"reference":[{"key":"2023061313512478900_bty605-B1","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1038\/75556","article-title":"Gene ontology: tool for the unification of biology","volume":"25","author":"Ashburner","year":"2000","journal-title":"Nat. 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