• 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