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Gene Ontology

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The Disease Portals, disease-gene annotation and the RGD disease ontology at the Rat Genome Database.

Database : the journal of biological databases and curation
The Rat Genome Database (RGD;http://rgd.mcw.edu/) provides critical datasets and software tools to a diverse community of rat and non-rat researchers worldwide. To meet the needs of the many users whose research is disease oriented, RGD has created a...

GO annotation in InterPro: why stability does not indicate accuracy in a sea of changing annotations.

Database : the journal of biological databases and curation
The removal of annotation from biological databases is often perceived as an indicator of erroneous annotation. As a corollary, annotation stability is considered to be a measure of reliability. However, diverse data-driven events can affect the stab...

Translational informatics approach for identifying the functional molecular communicators linking coronary artery disease, infection and inflammation.

Molecular medicine reports
Translational informatics approaches are required for the integration of diverse and accumulating data to enable the administration of effective translational medicine specifically in complex diseases such as coronary artery disease (CAD). In the cur...

Comparison of module detection algorithms in protein networks and investigation of the biological meaning of predicted modules.

BMC bioinformatics
BACKGROUND: It is generally acknowledged that a functional understanding of a biological system can only be obtained by an understanding of the collective of molecular interactions in form of biological networks. Protein networks are one particular n...

GOexpress: an R/Bioconductor package for the identification and visualisation of robust gene ontology signatures through supervised learning of gene expression data.

BMC bioinformatics
BACKGROUND: Identification of gene expression profiles that differentiate experimental groups is critical for discovery and analysis of key molecular pathways and also for selection of robust diagnostic or prognostic biomarkers. While integration of ...

Is the crowd better as an assistant or a replacement in ontology engineering? An exploration through the lens of the Gene Ontology.

Journal of biomedical informatics
Biomedical ontologies contain errors. Crowdsourcing, defined as taking a job traditionally performed by a designated agent and outsourcing it to an undefined large group of people, provides scalable access to humans. Therefore, the crowd has the pote...

Interoperability between phenotypes in research and healthcare terminologies--Investigating partial mappings between HPO and SNOMED CT.

Journal of biomedical semantics
BACKGROUND: Identifying partial mappings between two terminologies is of special importance when one terminology is finer-grained than the other, as is the case for the Human Phenotype Ontology (HPO), mainly used for research purposes, and SNOMED CT,...

Reporting phenotypes in mouse models when considering body size as a potential confounder.

Journal of biomedical semantics
Genotype-phenotype studies aim to identify causative relationships between genes and phenotypes. The International Mouse Phenotyping Consortium is a high throughput phenotyping program whose goal is to collect phenotype data for a knockout mouse stra...

A knowledgebase of the human Alu repetitive elements.

Journal of biomedical informatics
Alu elements are the most abundant retrotransposons in the human genome with more than one million copies. Alu repeats have been reported to participate in multiple processes related with genome regulation and compartmentalization. Moreover, they hav...