Bioinformatics tools for single nucleotide polymorphism discovery and analysis
Bioinformatics tools for single nucleotide polymorphism discovery and analysis
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DOI：
10.1196/annals.1310.011
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发表时间：
2004-01-01
期刊：
影响因子：
--
通讯作者：
Buetow, KH
中科院分区：
文献类型：
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作者：
Clifford, RJ;Edmonson, MN;Buetow, KH
单核苷酸多态性（SNPs）是研究疾病遗传基础的宝贵资源。这些变异体可以作为精细遗传作图实验和全基因组关联研究的标记。这些核苷酸多态性中的某些可能使个体易患糖尿病、高血压或癌症等疾病，或影响疾病进展。生物信息学技术在SNP发现和分析中发挥着重要作用。我们使用计算方法来识别SNP，并预测它们是否可能是中性或有害的。我们还使用信息学来注释包含SNP的基因。为了使这些信息提供给研究界，我们提供了各种互联网访问的数据访问和显示工具。这些工具允许研究人员基于感兴趣的基因、遗传或物理图谱位置或表达模式检索有关SNP的数据。
Single nucleotide polymorphisms (SNPs) are a valuable resource for investigating the genetic basis of disease. These variants can serve as markers for fine-scale genetic mapping experiments and genome-wide association studies. Certain of these nucleotide polymorphisms may predispose individuals to illnesses such as diabetes, hypertension, or cancer, or affect disease progression. Bioinformatics techniques can play an important role in SNP discovery and analysis. We use computational methods to identify SNPs and to predict whether they are likely to be neutral or deleterious. We also use informatics to annotate genes that contain SNPs. To make this information available to the research community, we provide a variety of Internet-accessible tools for data access and display. These tools allow researchers to retrieve data about SNPs based on gene of interest, genetic or physical map location, or expression pattern.