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计算性单核苷酸多态性分析:当前方法与未来前景

Computational SNP analysis: current approaches and future prospects.

作者信息

Kumar Ambuj, Rajendran Vidya, Sethumadhavan Rao, Shukla Priyank, Tiwari Shalinee, Purohit Rituraj

机构信息

Bioinformatics Division, School of Bio Sciences and Technology, Vellore Institute of Technology University, Vellore, 632014, Tamil Nadu, India.

出版信息

Cell Biochem Biophys. 2014 Mar;68(2):233-9. doi: 10.1007/s12013-013-9705-6.

Abstract

The computational approaches in determining disease-associated Non-synonymous single nucleotide polymorphisms (nsSNPs) have evolved very rapidly. Large number of deleterious and disease-associated nsSNP detection tools have been developed in last decade showing high prediction reliability. Despite of all these highly efficient tools, we still lack the accuracy level in determining the genotype-phenotype association of predicted nsSNPs. Furthermore, there are enormous questions that are yet to be computationally compiled before we might talk about the prediction accuracy. Earlier we have incorporated molecular dynamics simulation approaches to foster the accuracy level of computational nsSNP analysis roadmap, which further helped us to determine the changes in the protein phenotype associated with the computationally predicted disease-associated mutation. Here we have discussed on the present scenario of computational nsSNP characterization technique and some of the questions that are crucial for the proper understanding of pathogenicity level for any disease associated mutations.

摘要

在确定与疾病相关的非同义单核苷酸多态性(nsSNPs)方面,计算方法发展得非常迅速。在过去十年中,大量有害的和与疾病相关的nsSNP检测工具被开发出来,显示出很高的预测可靠性。尽管有所有这些高效的工具,但我们在确定预测的nsSNPs的基因型-表型关联方面仍缺乏准确性。此外,在我们能够谈论预测准确性之前,还有大量问题有待通过计算进行整理。早些时候,我们纳入了分子动力学模拟方法,以提高计算nsSNP分析路线图的准确性水平,这进一步帮助我们确定与计算预测的疾病相关突变相关的蛋白质表型变化。在这里,我们讨论了计算nsSNP表征技术的现状以及一些对于正确理解任何疾病相关突变的致病性水平至关重要的问题。

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