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Large Scale Analysis of Small Repeats via Mining of the Human Genome

机译:通过挖掘人类基因组的小重复大规模分析

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Small repetitive sequences, called tandem repeats, are abundant throughout the human genome, both in coding and in non-coding regions. Their role is still mostly unknown, but at least 20 of those repetitive sequences have been related to neurodegenerative disorders. The mutational process that is the basis of these disorders is not yet fully understood. Comprehending the origin, function and possible usefulness of the tandem repeats, will require analysis of huge data from various sources. In this paper we attempt such a large scale analysis of short repeats. We describe and discuss the steps that are needed to be taken to perform large scale genomic analysis. We define tandem repeats and compare the results of repeat localization with genome annotations. We show that the degree of repetitiveness is different for the human chromosomes. Chromosome 19 and 17 have more repeats per mega base pair than any of the other chromosomes, the Y chromosome has the least. We also demonstrate that some repeat motifs are much more common than others. Mono- and dinucleotide repeats are the most abundant, with A and AAC the most common motifs, while CG is hardly present within the genome. Repeats with unit length three are underrepresented on the genome and repeats with unit length 9 are extremely rare.
机译:在编码和非编码区中,在整个人类基因组中,叫做串联重复的小重复序列是丰富的。他们的作用仍然是最令人不安的,但这些重复序列中的至少20次与神经变性障碍有关。尚未完全理解为这些障碍的基础的突变过程。理解串联重复的起源,功能和可能的有用性,需要分析来自各种来源的巨大数据。在本文中,我们试图对短重复进行这种大规模分析。我们描述并讨论进行大规模基因组分析所需的步骤。我们定义串联重复并与基因组注释进行重复定位的结果。我们表明,人类染色体的重复程度是不同的。染色体19和17具有比任何其他染色体的兆颈部对的更多重复,Y染色体具有至少。我们还证明了一些重复图案比其他主题要普遍。单核苷酸重复是最丰富的,具有A和AAC最常见的基序,而CG几乎不存在于基因组内。具有单位长度三的重复在基因组上具有代表性,并且具有单位长度9的重复非常罕见。

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