用于检测复杂疾病相关位点的SNP分析系统

Yoko Higashi, Hirotaka Higuchi, T. Kido, Hirohito Matsumine, Masanori Baba, Toshihiko Morimoto, Masaaki Muramatsu
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引用次数: 3

摘要

我们开发了一个系统,支持疾病关联研究,以检测可能导致复杂疾病的基因。该系统的主要功能是检查每种多态性与疾病相关的可能性。另一个重要功能是进行连锁不平衡分析,并将snp(单核苷酸多态性)组合成LDblocks(连锁不平衡块),以提高关联研究的统计能力。这些分析可以有效地使用新系统的分析管道和方便的工具来消除不充分的数据等。因此,系统在单位时间内可以分析的snp数量比标准的人工程序高30到50倍。新系统也有一个复杂的可视化工具。主查看器显示基因组结构,并链接到显示深度分析结果的另一个主查看器。这些查看器使用户可以轻松地检查和解释结果。新系统将为复杂疾病的基因组研究提供重要帮助。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
SNP analysis system for detecting complex disease associated sites
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.
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