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| Content Provider | IEEE Xplore Digital Library |
|---|---|
| Author | Kann, M.G. |
| Copyright Year | 2012 |
| Description | Author affiliation: Department of Biological Sciences, University of Maryland, Baltimore County, Baltimore, USA (Kann, M.G.) |
| Abstract | Identifying the functional context for key molecular disruptions in complex diseases is a major goal of modern medicine that will lead to improved preventive clinical approaches, earlier diagnosis and more effective personalized disease therapies. Most available resources for visualization and analysis of disease mutations centered on gene analysis and do not leverage information about similarity on the functional context of the mutation. In addition, gene-centric approaches are confounded because genes may share some functional subunits, or protein domains, but not others. We have built a resource for domain mapping of disease mutations, DMDM, a protein domain database in which each disease mutation can be displayed by its protein domain location. DMDM provides a unique domain-level view where human coding mutations are mapped to protein domains by highlighting molecular relationships among mutations from different diseases that might not have been discovered with traditional gene-centric visualization tools. We have also developed a statistical method, the domain significance scores (DSScores), to assess the significance of disease mutation clusters on protein domains. When we applied the DS-Scores to human data and identified domain hotspots in oncogenes, tumor suppressors, and genes associated with Mendelian diseases. |
| Starting Page | 1 |
| Ending Page | 1 |
| File Size | 58321 |
| Page Count | 1 |
| File Format | |
| ISBN | 9781467313209 |
| e-ISBN | 9781467313216 |
| e-ISBN | 9781467313193 |
| DOI | 10.1109/ICCABS.2012.6182622 |
| Language | English |
| Publisher | Institute of Electrical and Electronics Engineers, Inc. (IEEE) |
| Publisher Date | 2012-02-23 |
| Publisher Place | USA |
| Access Restriction | Subscribed |
| Rights Holder | Institute of Electrical and Electronics Engineers, Inc. (IEEE) |
| Subject Keyword | Proteins Context Translational bioinformatics Humans Data visualization Prediction of domain-domain interactions Protein domain Coevolution Bioinformatics Marine vehicles Diseases |
| Content Type | Text |
| Resource Type | Article |
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