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
Link To Document :
بازگشت