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Design of microarray probes for detection of mutations

机译:检测突变微阵列探头的设计

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摘要

As we gather knowledge about the relationship between genetic mutations and the predisposition to certain diseases, it becomes of importance to screen for single nucleotide polymorphisms (SNP) in entire populations, using low cost and fast methods. Microarrays are a recent technology characterized by the miniaturization of DNA hybridization sampling and the scalability of the monitored DNA sequences, making available the detection of genomic polymorphisms in a large scale. A draw back in this technology, however, is the large time consuming work associated with the design of probes for such propose, due to the several properties that all probes must have in common and, at same time, the uniqueness of each one. In this paper we present a computational solution to automate the process of probe design for the purpose of mutations detection, reducing the overall workflow time and increasing the accuracy of the final probes.
机译:随着我们收集关于遗传突变与某些疾病的易感性之间的关系的知识,使用低成本和快速方法,在整个群体中对单一核苷酸多态性(SNP)筛选的重要性。微阵列是最近的一种技术,其特征在于DNA杂交采样的小型化和所监测的DNA序列的可扩展性,可用于大规模的基因组多态性的检测。然而,由于所有探针必须具有共同的若干特性,并且同时,同时,因此概率与这种技术的设计相关的概率与这种技术的设计有关。在本文中,我们提出了一种计算解决方案,以自动化探针设计的过程,以便突变检测,降低整体工作流时间并提高最终探针的准确性。

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