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PLoS One. 2012;7(12):e49686. doi: 10.1371/journal.pone.0049686. Epub 2012 Dec 10.

A framework for annotating human genome in disease context.

Author information

1
The Department of Electronics and Information Engineering, Huazhong University of Science and Technology, Wuhan, Hubei, People's Republic of China.

Abstract

Identification of gene-disease association is crucial to understanding disease mechanism. A rapid increase in biomedical literatures, led by advances of genome-scale technologies, poses challenge for manually-curated-based annotation databases to characterize gene-disease associations effectively and timely. We propose an automatic method-The Disease Ontology Annotation Framework (DOAF) to provide a comprehensive annotation of the human genome using the computable Disease Ontology (DO), the NCBO Annotator service and NCBI Gene Reference Into Function (GeneRIF). DOAF can keep the resulting knowledgebase current by periodically executing automatic pipeline to re-annotate the human genome using the latest DO and GeneRIF releases at any frequency such as daily or monthly. Further, DOAF provides a computable and programmable environment which enables large-scale and integrative analysis by working with external analytic software or online service platforms. A user-friendly web interface (doa.nubic.northwestern.edu) is implemented to allow users to efficiently query, download, and view disease annotations and the underlying evidences.

PMID:
23251346
PMCID:
PMC3519466
DOI:
10.1371/journal.pone.0049686
[Indexed for MEDLINE]
Free PMC Article

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