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Nature Genetics 25, 25 - 29 (01 May 2000). Gene Ontology: tool for the unification of biology. What is gene ontology(GO ) ?. Why do we need GO?. If you were searching for new targets for antibiotics, you might want to find. All the gene products that are :
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Nature Genetics 25, 25 - 29 (01 May 2000) Gene Ontology: tool for the unification of biology
What is gene ontology(GO) ? Why do we need GO?
If you were searching for newtargets for antibiotics, you mightwant to find...
All the gene products that are: • involved in bacterial protein synthesis • significantly different sequences or structures • from those in humans. • If one database describes these molecules as being • involved in “translation”, whereas another uses the • phrase “protein synthesis” It will be difficult for you and even harder for a computer to find functionally equivalent terms.
Bottleneck of biologicaldata mining • Biological data is fragmented • Biologists waste a lot of time and effort in searching for all of the available information about each small area of research. • Language used in biological research is not well controlled • Inhibit effective searching by both computers and people.
The Gene Ontology (GO) • To standardize the representation of gene and gene product attributes across species and databases.
Gene Ontology • GO term • Definition • Database ID • GO term: transcription initiation • Definition: Processes involved in the assembly of the RNA polymerase complex at the promoter region of a DNA template resulting in the subsequent synthesis of RNA from that promoter. • Database ID: GO:0006352
Scope of GO terms • Annotated gene products (updated on 2013.12.01): • Human: 45,563 • Mouse: 25,395 • Rat: 23,219
http://geneontology.org/ GO:0050975 - Perception of touch
http://geneontology.org/ (A) Tooth bud initiation (B) Cellular bud initiation (C) Flower bud initiation
Gene ontology project • Began as a collaboration between three model organism databases in 1998: • FlyBase (Drosophila) • Saccharomyces Genome Database (SGD) • Mouse Genome Database (MGD) • GO Consortium has grown to include many databases, including several of the world's major repositories for plant, animal and microbial genomes.
How does GO work? • Three structured controlled vocabularies (GO terms) that describe gene products in terms of their associated (1) biological processes, (2) cellular components and (3) molecular functionsin a species-independent manner
Cellular component: the parts of a cell or its extracellular environment • Molecular function: the elemental activities of a gene product at the molecular level, such as binding or catalysis • Biological process: operations or sets of molecular events with a defined beginning and end
Molecular Function andBiological Process • A gene product may have several functions. • A function refers to a reaction or activity. • Sets of functions make up a biological process
Example: GO terms for cytochrome c • Cellular component: mitochondrial matrix and mitochondrial inner membrane • Molecular function: oxidoreductase activity • Biological process: oxidative phosphorylationand induction of cell death
References • The Gene Ontology Consortium. Gene ontology: tool for the unification of biology. Nat. Genet. 2000;25:25–29. • A guide to best practices for Gene Ontology (GO) manual annotation. Database (Oxford). 2013; 2013: bat054 • The Gene Ontology Consortium. Gene Ontology Annotations and Resources. Nucleic Acids Res. 2013;41:D530–D535. • The Gene Ontology Consortium. The Gene Ontology in 2010: extensions and refinements. Nucleic Acids Res. 2010;38:D331–D335. • Barrell D, Dimmer E, Huntley R, et al. The GOA database in 2009–an integrated Gene Ontology Annotation resource. Nucleic Acids Res. 2009;37:D396–D403. • MacMullen JW. Quantifying literature citations, index terms, and Gene Ontology annotations in the Saccharomyces Genome Database to assess results-set clustering utility. Proceeding of the ASIST Annual Meeting. 2006;43:1–17. • Carbon S, Ireland A, Mungall CJ, et al. AmiGO: online access to ontology and annotation data. Bioinformatics. 2009;25:288–289. • Binns D, Dimmer E, Huntley R, et al. QuickGO: a web-based tool for Gene Ontology searching. Bioinformatics. 2009;25:304–306. • Bard J, Rhee SY, Ashburner M. An ontology for cell types. Genome Biol. 2005;6:R21. • Alam-FaruqueY, Huntley RP, Khodiyar VK, et al. The impact of focused Gene Ontology curation of specific mammalian systems.