Small insertions and deletions (INDELs) in human genomes
Small insertions and deletions (INDELs) in human genomes
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DOI：
10.1093/hmg/ddq400
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发表时间：
2010-10-15
影响因子：
3.5
通讯作者：
Devine, Scott E.
中科院分区：
文献类型：
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作者：
Mullaney, Julienne M.;Mills, Ryan E.;Devine, Scott E.
在这篇综述中，我们重点介绍了在检测人类基因组中的小插入和缺失（INDELs）方面取得的进展。在过去的十年中，在人类种群和个人基因组中发现了数百万个小indel。由这些小的indel引起的遗传变异的数量是巨大的。人类基因组中INDELs的数量仅次于单核苷酸多态性（SNPs）的数量，并且就变异的碱基对而言，INDELs引起的变异水平与SNPs相似。其中许多INDELs与人类基因中的重要功能位点相对应，因此可能影响人类特征和疾病。因此，微小的INDEL变异将在个性化医疗中发挥突出作用。
In this review, we focus on progress that has been made with detecting small insertions and deletions (INDELs) in human genomes. Over the past decade, several million small INDELs have been discovered in human populations and personal genomes. The amount of genetic variation that is caused by these small INDELs is substantial. The number of INDELs in human genomes is second only to the number of single nucleotide polymorphisms (SNPs), and, in terms of base pairs of variation, INDELs cause similar levels of variation as SNPs. Many of these INDELs map to functionally important sites within human genes, and thus, are likely to influence human traits and diseases. Therefore, small INDEL variation will play a prominent role in personalized medicine.