[Show abstract][Hide abstract] ABSTRACT: The Gene Ontology (GO) is an important component of modern biological knowledge representation with great utility for computational analysis of genomic and genetic data. The Gene Ontology Consortium (GOC) consists of a large team of contributors including curation teams from most model organism database groups as well as curation teams focused on representation of data relevant to specific human diseases. Key to the generation of consistent and comprehensive annotations is the development and use of shared standards and measures of curation quality. The GOC engages all contributors to work to a defined standard of curation that is presented here in the context of annotation of genes in the laboratory mouse. Comprehensive understanding of the origin, epistemology, and coverage of GO annotations is essential for most effective use of GO resources. Here the application of comparative approaches to capturing functional data in the mouse system is described.
[Show abstract][Hide abstract] ABSTRACT: The Gene Ontology (GO) Consortium (GOC, http://www.geneontology.org) is a community-based bioinformatics resource that classifies gene product function through the use of structured, controlled
vocabularies. Over the past year, the GOC has implemented several processes to increase the quantity, quality and specificity
of GO annotations. First, the number of manual, literature-based annotations has grown at an increasing rate. Second, as a
result of a new ‘phylogenetic annotation’ process, manually reviewed, homology-based annotations are becoming available for
a broad range of species. Third, the quality of GO annotations has been improved through a streamlined process for, and automated
quality checks of, GO annotations deposited by different annotation groups. Fourth, the consistency and correctness of the
ontology itself has increased by using automated reasoning tools. Finally, the GO has been expanded not only to cover new
areas of biology through focused interaction with experts, but also to capture greater specificity in all areas of the ontology
using tools for adding new combinatorial terms. The GOC works closely with other ontology developers to support integrated
use of terminologies. The GOC supports its user community through the use of e-mail lists, social media and web-based resources.
Full-text · Article · Jan 2013 · Nucleic Acids Research
[Show abstract][Hide abstract] ABSTRACT: The laboratory mouse is the premier animal model for studying human biology because all life stages can be accessed experimentally,
a completely sequenced reference genome is publicly available and there exists a myriad of genomic tools for comparative and
experimental research. In the current era of genome scale, data-driven biomedical research, the integration of genetic, genomic
and biological data are essential for realizing the full potential of the mouse as an experimental model. The Mouse Genome
Database (MGD; http://www.informatics.jax.org), the community model organism database for the laboratory mouse, is designed to facilitate the use of the laboratory mouse
as a model system for understanding human biology and disease. To achieve this goal, MGD integrates genetic and genomic data
related to the functional and phenotypic characterization of mouse genes and alleles and serves as a comprehensive catalog
for mouse models of human disease. Recent enhancements to MGD include the addition of human ortholog details to mouse Gene
Detail pages, the inclusion of microRNA knockouts to MGD’s catalog of alleles and phenotypes, the addition of video clips
to phenotype images, providing access to genotype and phenotype data associated with quantitative trait loci (QTL) and improvements
to the layout and display of Gene Ontology annotations.
Full-text · Article · Nov 2012 · Nucleic Acids Research
[Show abstract][Hide abstract] ABSTRACT: The Gene Ontology (GO) (http://www.geneontology.org) is a community bioinformatics resource that represents gene product function through the use of structured, controlled vocabularies.
The number of GO annotations of gene products has increased due to curation efforts among GO Consortium (GOC) groups, including
focused literature-based annotation and ortholog-based functional inference. The GO ontologies continue to expand and improve
as a result of targeted ontology development, including the introduction of computable logical definitions and development
of new tools for the streamlined addition of terms to the ontology. The GOC continues to support its user community through
the use of e-mail lists, social media and web-based resources.
Full-text · Article · Nov 2012 · Nucleic Acids Research
[Show abstract][Hide abstract] ABSTRACT: Manually annotated corpora are critical for the training and evaluation of automated methods to identify concepts in biomedical text.
This paper presents the concept annotations of the Colorado Richly Annotated Full-Text (CRAFT) Corpus, a collection of 97 full-length, open-access biomedical journal articles that have been annotated both semantically and syntactically to serve as a research resource for the biomedical natural-language-processing (NLP) community. CRAFT identifies all mentions of nearly all concepts from nine prominent biomedical ontologies and terminologies: the Cell Type Ontology, the Chemical Entities of Biological Interest ontology, the NCBI Taxonomy, the Protein Ontology, the Sequence Ontology, the entries of the Entrez Gene database, and the three subontologies of the Gene Ontology. The first public release includes the annotations for 67 of the 97 articles, reserving two sets of 15 articles for future text-mining competitions (after which these too will be released). Concept annotations were created based on a single set of guidelines, which has enabled us to achieve consistently high interannotator agreement.
As the initial 67-article release contains more than 560,000 tokens (and the full set more than 790,000 tokens), our corpus is among the largest gold-standard annotated biomedical corpora. Unlike most others, the journal articles that comprise the corpus are drawn from diverse biomedical disciplines and are marked up in their entirety. Additionally, with a concept-annotation count of nearly 100,000 in the 67-article subset (and more than 140,000 in the full collection), the scale of conceptual markup is also among the largest of comparable corpora. The concept annotations of the CRAFT Corpus have the potential to significantly advance biomedical text mining by providing a high-quality gold standard for NLP systems. The corpus, annotation guidelines, and other associated resources are freely available at http://bionlp-corpora.sourceforge.net/CRAFT/index.shtml.
[Show abstract][Hide abstract] ABSTRACT: The Mouse Genome Database (MGD, http://www.informatics.jax.org) is the international community resource for integrated genetic, genomic and biological data about the laboratory mouse. Data in MGD are obtained through loads from major data providers and experimental consortia, electronic submissions from laboratories and from the biomedical literature. MGD maintains a comprehensive, unified, non-redundant catalog of mouse genome features generated by distilling gene predictions from NCBI, Ensembl and VEGA. MGD serves as the authoritative source for the nomenclature of mouse genes, mutations, alleles and strains. MGD is the primary source for evidence-supported functional annotations for mouse genes and gene products using the Gene Ontology (GO). MGD provides full annotation of phenotypes and human disease associations for mouse models (genotypes) using terms from the Mammalian Phenotype Ontology and disease names from the Online Mendelian Inheritance in Man (OMIM) resource. MGD is freely accessible online through our website, where users can browse and search interactively, access data in bulk using Batch Query or BioMart, download data files or use our web services Application Programming Interface (API). Improvements to MGD include expanded genome feature classifications, inclusion of new mutant allele sets and phenotype associations and extensions of GO to include new relationships and a new stream of annotations via phylogenetic-based approaches.
Full-text · Article · Nov 2011 · Nucleic Acids Research
[Show abstract][Hide abstract] ABSTRACT: The Mouse Genome Database (MGD) is the community model organism database for the laboratory mouse and the authoritative source
for phenotype and functional annotations of mouse genes. MGD includes a complete catalog of mouse genes and genome features
with integrated access to genetic, genomic and phenotypic information, all serving to further the use of the mouse as a model
system for studying human biology and disease. MGD is a major component of the Mouse Genome Informatics (MGI, http://www.informatics.jax.org/) resource. MGD contains standardized descriptions of mouse phenotypes, associations between mouse models and human genetic
diseases, extensive integration of DNA and protein sequence data, normalized representation of genome and genome variant information.
Data are obtained and integrated via manual curation of the biomedical literature, direct contributions from individual investigators
and downloads from major informatics resource centers. MGD collaborates with the bioinformatics community on the development
and use of biomedical ontologies such as the Gene Ontology (GO) and the Mammalian Phenotype (MP) Ontology. Major improvements
to the Mouse Genome Database include comprehensive update of genetic maps, implementation of new classification terms for
genome features, development of a recombinase (cre) portal and inclusion of all alleles generated by the International Knockout
Mouse Consortium (IKMC).
Full-text · Article · Nov 2010 · Nucleic Acids Research
[Show abstract][Hide abstract] ABSTRACT: The Gene Ontology (GO) Consortium (http://www.geneontology.org) (GOC) continues to develop, maintain and use a set of structured, controlled vocabularies for the annotation of genes, gene
products and sequences. The GO ontologies are expanding both in content and in structure. Several new relationship types have
been introduced and used, along with existing relationships, to create links between and within the GO domains. These improve
the representation of biology, facilitate querying, and allow GO developers to systematically check for and correct inconsistencies
within the GO. Gene product annotation using GO continues to increase both in the number of total annotations and in species
coverage. GO tools, such as OBO-Edit, an ontology-editing tool, and AmiGO, the GOC ontology browser, have seen major improvements
in functionality, speed and ease of use.
Full-text · Article · Nov 2009 · Nucleic Acids Research
[Show abstract][Hide abstract] ABSTRACT: The Mouse Genome Informatics (MGI; "http://www.informatics.jax.org":http://www.informatics.jax.org) group is comprised of several collaborating projects including the Mouse Genome Database (MGD) Project, the Gene Expression Database (GXD) Project, the Mouse Tumor Biology (MTB) Database Project, and the Gene Ontology (GO) Project. Literature identification and collection is performed cooperatively amongst the groups.
In recent years many institutional libraries have transitioned from a focus largely on print holdings to one of electronic access to journals. This change has necessitated adaptation on the part of the MGI curatorial group. Whereas the majority of journals covered by the group used to be surveyed in paper form, those journals are now surveyed electronically. Approximately 160 journals have been identified as those most relevant to the various database groups. Each curator in the group has the responsibility of scanning several journals for articles relevant to any of the database projects. Articles chosen via this process are marked as to their potential significance for various projects. Each article is catalogued in a Master Bibliography section of the MGI database system and annotated to the database sections for which it has been identified as relevant. A secondary triage process allows curators from each group to scan the chosen articles and mark ones desired for their project if such annotation has been missed on the initial scan.
Once articles have been identified for each database project a variety of processes are implemented to further categorize and index data from those articles. For example, the Alleles and Phenotype section of the MGD database indexes each article marked for MGD and in this indexing process they identify each mouse gene and allele examined in the article. The GXD database indexing process has a different focus. In this case articles are indexed with regard to the stage of development used in the study as well as the assay technique used. In each case the indexing gives an overview of the data held in the article and assists in the more extensive curation performed in the following step of the curation process. Indexing also provides each group with valuable information used to prioritize and streamline the overall curation process.
The MGI projects are supported by NHGRI grants HG000330, HG00273, and HG003622, NICHD grant HD033745, and NCI grant CA089713.
Full-text · Article · May 2009 · Nature Precedings
[Show abstract][Hide abstract] ABSTRACT: The Mouse Genome Database (MGD, http://www.informatics.jax.org/), integrates genetic, genomic and phenotypic information about the laboratory mouse, a primary animal model for studying
human biology and disease. Information in MGD is obtained from diverse sources, including the scientific literature and external
databases, such as EntrezGene, UniProt and GenBank. In addition to its extensive collection of phenotypic allele information
for mouse genes that is curated from the published biomedical literature and researcher submission, MGI includes a comprehensive
representation of mouse genes including sequence, functional (GO) and comparative information. MGD provides a data mining
platform that enables the development of translational research hypotheses based on comparative genotype, phenotype and functional
analyses. MGI can be accessed by a variety of methods including web-based search forms, a genome sequence browser and downloadable
database reports. Programmatic access is available using web services. Recent improvements in MGD described here include the
unified mouse gene catalog for NCBI Build 37 of the reference genome assembly, and improved representation of mouse mutants
Full-text · Article · Dec 2008 · Nucleic Acids Research