Bioinformatics tools for single nucleotide polymorphism discovery and analysis

被引:28
作者
Clifford, RJ [1 ]
Edmonson, MN [1 ]
Nguyen, C [1 ]
Scherpbier, T [1 ]
Hu, Y [1 ]
Buetow, KH [1 ]
机构
[1] NCI, Ctr Canc Res, Lab Populat Genet, Bethesda, MD 20892 USA
来源
APPLICATIONS OF BIOINFORMATICS IN CANCER DETECTION | 2004年 / 1020卷
关键词
bioinformatics; single nucleotide polymorphisms; SNPs;
D O I
10.1196/annals.1310.011
中图分类号
Q5 [生物化学];
学科分类号
071010 ; 081704 ;
摘要
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.
引用
收藏
页码:101 / 109
页数:9
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