Detection of single nucleotide polymorphisms.
Detection of single nucleotide polymorphisms.
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DOI：
10.21775/cimb.005.043
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发表时间：
2003-04
影响因子：
3.1
通讯作者：
P. Kwok;Xiangning Chen
中科院分区：
文献类型：
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作者：
P. Kwok;Xiangning Chen
单核苷酸多态性（SNP）检测技术用于扫描新的多态性和确定目标序列中已知多态性的等位基因。SNP检测技术已经从劳动密集型、耗时和昂贵的过程发展到一些高度自动化、高效和相对廉价的方法。在人类基因组计划的推动下，这些技术正在成熟，并且在SNP发现和基因分型领域都发现了强大的策略。接近完成的人类基因组序列为所有其他测序数据的比较提供了参考。因此，全球SNP发现仅受活动可用资金数量的限制。局部，靶标，SNP发现主要依赖于直接DNA测序或变性高效液相色谱（dHPLC）。近年来，SNP基因分型方法的数量激增，目前有许多可靠的方法可用。然而，对SNP基因分型的需求是巨大的，没有一种方法能够满足所有使用SNP的研究的需求。尽管在过去十年中取得了相当大的进展，但必须开发新的方法来降低成本并提高SNP检测的速度。
Single nucleotide polymorphism (SNP) detection technologies are used to scan for new polymorphisms and to determine the allele(s) of a known polymorphism in target sequences. SNP detection technologies have evolved from labor intensive, time consuming, and expensive processes to some of the most highly automated, efficient, and relatively inexpensive methods. Driven by the Human Genome Project, these technologies are now maturing and robust strategies are found in both SNP discovery and genotyping areas. The nearly completed human genome sequence provides the reference against which all other sequencing data can be compared. Global SNP discovery is therefore only limited by the amount of funding available for the activity. Local, target, SNP discovery relies mostly on direct DNA sequencing or on denaturing high performance liquid chromatography (dHPLC). The number of SNP genotyping methods has exploded in recent years and many robust methods are currently available. The demand for SNP genotyping is great, however, and no one method is able to meet the needs of all studies using SNPs. Despite the considerable gains over the last decade, new approaches must be developed to lower the cost and increase the speed of SNP detection.