DocumentCode
1987931
Title
SNP analysis system for detecting complex disease associated sites
Author
Higashi, Yoko ; Higuchi, Hirotaka ; Kido, Takashi ; Matsumine, Hirohito ; Baba, Masanori ; Morimoto, Toshihiko ; Muramatsu, Masaaki
Author_Institution
NTT Data Co. Ltd., Tokyo, Japan
fYear
2003
fDate
11-14 Aug. 2003
Firstpage
450
Lastpage
451
Abstract
We developed a system that supports disease association studies to detect genes that may cause complex diseases. The main function of the system is to examine the possibility of each polymorphism being associated with a disease. Another important function is to perform linkage disequilibrium analysis and combine SNPs (single nucleotide polymorphisms) together into LDblocks (linkage-disequilibrium-blocks) to improve statistical power for association study. Those analyses can be efficiently performed using an analysis pipeline of the new system with handy tools for eliminating the inadequate data and so on. Consequently, the number of SNPs the system can analyze is about 30 to 50 times higher than by the standard manual procedures per unit of time. The new system also has a sophisticated visualization tool. The main viewer displays the genomic structure and is linked to another main viewer showing the in-depth analysis result. These viewers let the user easily check and make an interpretation of the results. The new system should provide significant assistance for the genome research of complex diseases.
Keywords
data visualisation; diseases; genetics; medical computing; medical information systems; organic compounds; polymorphism; software packages; SNP analysis system; complex disease associated sites; gene detection; genome research; genomic structure; linkage-disequilibrium-blocks; single nucleotide polymorphisms; sophisticated visualization tool; Bayesian methods; Bioinformatics; Couplings; Diseases; Genomics; Performance analysis; Poles and towers; Proteins; Software algorithms; Testing;
fLanguage
English
Publisher
ieee
Conference_Titel
Bioinformatics Conference, 2003. CSB 2003. Proceedings of the 2003 IEEE
Print_ISBN
0-7695-2000-6
Type
conf
DOI
10.1109/CSB.2003.1227368
Filename
1227368
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