DocumentCode
2477215
Title
PhenOMIM: An OMIM-based secondary database purported for phenotypic comparison
Author
Van Triest, Han J W ; Chen, Danqi ; Ji, Xinglai ; Qi, Shouliang ; Li-Ling, Jesse
Author_Institution
Sino-Dutch Biomed. & Inf. Eng. Sch., Northeastern Univ., Shenyang, China
fYear
2011
fDate
Aug. 30 2011-Sept. 3 2011
Firstpage
3589
Lastpage
3592
Abstract
Phenotypic comparison may provide crucial information for obtaining insights into molecular interactions underlying various diseases. However, few attempts have been made to systematically analyze the phenotypes of hereditary disorders, mainly owing to the poor quality of text descriptions and lack of a unified system of descriptors. Here we present a secondary database, PHENOMIM, for translating the phenotypic data obtained from the Online Mendelian Inheritance in Man (OMIM) database into a structured form. Moreover, a web interface has also been developed for visualizing the data and related information from the OMIM and PhenOMIM databases. The data is freely available online for reviewing and commenting purposes and can be found at http://faculty.neu.edu.cn/bmie/han/PhenOMIM/.
Keywords
diseases; genomics; medical computing; medical information systems; molecular biophysics; OMIM-based secondary database; Online Mendelian Inheritance in Man; PhenOMIM; hereditary disorders; phenotypic comparison; phenotypic data; web interface; Bioinformatics; Databases; Diseases; Genetics; Humans; Ontologies; Vocabulary; Databases, Genetic; Humans; Phenotype;
fLanguage
English
Publisher
ieee
Conference_Titel
Engineering in Medicine and Biology Society, EMBC, 2011 Annual International Conference of the IEEE
Conference_Location
Boston, MA
ISSN
1557-170X
Print_ISBN
978-1-4244-4121-1
Electronic_ISBN
1557-170X
Type
conf
DOI
10.1109/IEMBS.2011.6090600
Filename
6090600
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