期刊论文详细信息
American Journal of Bioinformatics
Ten Bioinformatics Tools for Single Nucleotide Polymorphisms Detection | Science Publications
Hamed Karimi1  Mahin Ghorbani1 
关键词: SNP Detection;    Single Nucleotide Polymorphism;    Biomarker;    Bioinformatics Tools;    Drug Designing;   
DOI  :  10.3844/ajbsp.2014.45.48
学科分类:生物技术
来源: Science Publications
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【 摘 要 】

SingleNucleotide Polymorphisms (SNPs) as unique genetic variations are widely used asbiomarkers for drug designing and development for individualized therapy. SNPgenotyping techniques such as SBE with MS detection, SBE with fluorescence intensity detection, The FP-TDI, Pyrosequencing and The TaqMan 5’ nucleaseassay are low-speed, timeconsuming and very expensive. To overcome such disadvantages, bioinformaticstools are emerged as alternative methods for detection of SNPs in differentpopulations for different diseases such as cancer, diabetes, heart diseases, Downsyndrome and other genetic related disorders to help in rapid and low-cost andhigh accuracy detection methods. In this review we have listed 10bioinformatics tools for SNP detection to introduce them for the researcherswho are interested in SNP detection required studies in order to help them insaving time and cost and enhancement of accuracy of their results. The bioinformaticstools are selected in this review are poly phred,HGBASE, Human chromosome 21 cSNPdatabase, Dog Genome SNP Database, JSNP database, Polybays, novoSNP, HaploSNPer,PupaSNP and QualitySNPng, which havetheir own specific performance for detection of SNPs. Researcher can choiceappropriate programs on the basis of their research’s need and application. We hopethis review can be helpful and integrates scientific information withbioinformatics tools in drug discovery processes and other studies involved SNPdetection and lead to short time-low cost and high accuracy biomarker detectionin drug designing and development process.

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