Skip to main content

A framework for annotating human genome in disease context.

Publication ,  Journal Article
Xu, W; Wang, H; Cheng, W; Fu, D; Xia, T; Kibbe, WA; Lin, SM
Published in: PLoS One
2012

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.

Duke Scholars

Altmetric Attention Stats
Dimensions Citation Stats

Published In

PLoS One

DOI

EISSN

1932-6203

Publication Date

2012

Volume

7

Issue

12

Start / End Page

e49686

Location

United States

Related Subject Headings

  • Vocabulary, Controlled
  • Software
  • Humans
  • Genome, Human
  • Genetic Predisposition to Disease
  • General Science & Technology
  • Databases, Genetic
  • Computational Biology
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Xu, W., Wang, H., Cheng, W., Fu, D., Xia, T., Kibbe, W. A., & Lin, S. M. (2012). A framework for annotating human genome in disease context. PLoS One, 7(12), e49686. https://doi.org/10.1371/journal.pone.0049686
Xu, Wei, Huisong Wang, Wenqing Cheng, Dong Fu, Tian Xia, Warren A. Kibbe, and Simon M. Lin. “A framework for annotating human genome in disease context.PLoS One 7, no. 12 (2012): e49686. https://doi.org/10.1371/journal.pone.0049686.
Xu W, Wang H, Cheng W, Fu D, Xia T, Kibbe WA, et al. A framework for annotating human genome in disease context. PLoS One. 2012;7(12):e49686.
Xu, Wei, et al. “A framework for annotating human genome in disease context.PLoS One, vol. 7, no. 12, 2012, p. e49686. Pubmed, doi:10.1371/journal.pone.0049686.
Xu W, Wang H, Cheng W, Fu D, Xia T, Kibbe WA, Lin SM. A framework for annotating human genome in disease context. PLoS One. 2012;7(12):e49686.

Published In

PLoS One

DOI

EISSN

1932-6203

Publication Date

2012

Volume

7

Issue

12

Start / End Page

e49686

Location

United States

Related Subject Headings

  • Vocabulary, Controlled
  • Software
  • Humans
  • Genome, Human
  • Genetic Predisposition to Disease
  • General Science & Technology
  • Databases, Genetic
  • Computational Biology