학술논문

The Gene Ontology knowledgebase in 2023
Document Type
article
Author
Aleksander, Suzi ABalhoff, JamesCarbon, SethCherry, J MichaelDrabkin, Harold JEbert, DustinFeuermann, MarcGaudet, PascaleHarris, Nomi LHill, David PLee, RaymondMi, HuaiyuMoxon, SierraMungall, Christopher JMuruganugan, AnushyaMushayahama, TremayneSternberg, Paul WThomas, Paul DVan Auken, KimberlyRamsey, JoleneSiegele, Deborah AChisholm, Rex LFey, PetraAspromonte, Maria CristinaNugnes, Maria VictoriaQuaglia, FedericaTosatto, SilvioGiglio, MichelleNadendla, SuvarnaAntonazzo, GiuliaAttrill, Helendos Santos, GilMarygold, StevenStrelets, VictorTabone, Christopher JThurmond, JimZhou, PingleiAhmed, Saadullah HAsanitthong, PraoparnBuitrago, Diana LunaErdol, Meltem NGage, Matthew CKadhum, Mohamed AliLi, Kan Yan ChloeLong, MiaoMichalak, AleksandraPesala, AngelinePritazahra, ArmalyaSaverimuttu, Shirin CCSu, RenzhiThurlow, Kate ELovering, Ruth CLogie, ColinOliferenko, SnezhanaBlake, JudithChristie, KarenCorbani, LoriDolan, Mary ENi, LiSitnikov, DmitrySmith, CynthiaCuzick, AlayneSeager, JamesCooper, LaurelElser, JustinJaiswal, PankajGupta, ParulNaithani, SushmaLera-Ramirez, ManuelRutherford, KimWood, ValerieDe Pons, Jeffrey LDwinell, Melinda RHayman, G ThomasKaldunski, Mary LKwitek, Anne ELaulederkind, Stanley JFTutaj, Marek AVedi, MahimaWang, Shur-JenD’Eustachio, PeterAimo, LucilaAxelsen, KristianBridge, AlanHyka-Nouspikel, NevilaMorgat, AnneEngel, Stacia RKarra, KalpanaMiyasato, Stuart RNash, Robert SSkrzypek, Marek SWeng, ShuaiWong, Edith DBakker, ErikaBerardini, Tanya Z
Source
Genetics. 224(1)
Subject
Biological Sciences
Bioinformatics and Computational Biology
Genetics
1.1 Normal biological development and functioning
Underpinning research
Gene Ontology
Proteins
Molecular Sequence Annotation
Databases
Genetic
Computational Biology
gene annotation
gene function
knowledgebase
knowledge graphs
Gene Ontology Consortium
Developmental Biology
Biochemistry and cell biology
Language
Abstract
The Gene Ontology (GO) knowledgebase (http://geneontology.org) is a comprehensive resource concerning the functions of genes and gene products (proteins and noncoding RNAs). GO annotations cover genes from organisms across the tree of life as well as viruses, though most gene function knowledge currently derives from experiments carried out in a relatively small number of model organisms. Here, we provide an updated overview of the GO knowledgebase, as well as the efforts of the broad, international consortium of scientists that develops, maintains, and updates the GO knowledgebase. The GO knowledgebase consists of three components: (1) the GO-a computational knowledge structure describing the functional characteristics of genes; (2) GO annotations-evidence-supported statements asserting that a specific gene product has a particular functional characteristic; and (3) GO Causal Activity Models (GO-CAMs)-mechanistic models of molecular "pathways" (GO biological processes) created by linking multiple GO annotations using defined relations. Each of these components is continually expanded, revised, and updated in response to newly published discoveries and receives extensive QA checks, reviews, and user feedback. For each of these components, we provide a description of the current contents, recent developments to keep the knowledgebase up to date with new discoveries, and guidance on how users can best make use of the data that we provide. We conclude with future directions for the project.