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Gene Ontology Consortium: The Gene Ontology (GO) database and informatics resource
The Gene Ontology (GO) project provides structured, controlled vocabularies and classifications that cover several domains of molecular and cellular biology and are freely available for community use in the annotation of genes, gene products and sequences.
Trait-Associated SNPs Are More Likely to Be eQTLs: Annotation to Enhance Discovery from GWAS
Results showing that trait-associated SNPs are more likely to be eQTLs and that application of this information can enhance discovery of trait- associated SNPs for complex phenotypes raise the possibility that this information both to increase the heritability explained by identifiable genetic factors and to gain a better understanding of the biology underlying complex traits.
The Gene Ontology resource: enriching a GOld mine
A historical archive covering the past 15 years of GO data with a consistent format and file structure for both the ontology and annotations is made available to maintain consistency with other ontologies.
Structure, function, and inhibition of O6-alkylguanine-DNA alkyltransferase.
High-throughput discovery of novel developmental phenotypes
It is shown that human disease genes are enriched for essential genes, thus providing a dataset that facilitates the prioritization and validation of mutations identified in clinical sequencing efforts and reveals that incomplete penetrance and variable expressivity are common even on a defined genetic background.
Characterization of CPT-11 hydrolysis by human liver carboxylesterase isoforms hCE-1 and hCE-2.
Data indicate that hCE-2 is a high-affinity, high-velocity enzyme with respect to CPT-11, and likely plays a substantial role in C PT-11 activation in human liver at relevant pharmacological concentrations.
The Gene Ontology Resource: 20 years and still GOing strong
GO-CAM, a new framework for representing gene function that is more expressive than standard GO annotations, has been released, and users can now explore the growing repository of these models.
The Gene Ontology project in 2008
The GO Consortium has launched a focused effort to provide comprehensive and detailed annotation of orthologous genes across a number of ‘reference’ genomes, including human and several key model organisms.
Depletion of mammalian O6-alkylguanine-DNA alkyltransferase activity by O6-benzylguanine provides a means to evaluate the role of this protein in protection against carcinogenic and therapeutic…
- M. Dolan, R. Moschel, A. Pegg
- Biology, ChemistryProceedings of the National Academy of Sciences…
- 1 July 1990
Results indicate that depletion of the alkyltransferase by O6-benzylguanine may be used to investigate the role of the DNA repair protein in carcinogenesis and mutagenesis and that this treatment may be valuable to increase the chemotherapeutic effectiveness of chloroethylating agents.
The Gene Ontology in 2010: extensions and refinements
The Gene Ontology (GO) Consortium continues to develop, maintain and use a set of structured, controlled vocabularies for the annotation of genes, gene products and sequences and several new relationship types have been introduced and used to create links between and within the GO domains.