| 喻海燕 赵健 张珊珊 韩平 宋晓峰.与疾病相关的非同义单核苷酸多态性预测的研究进展[J].现代生物医学进展英文版,2014,14(35):6996-7000. |
| 与疾病相关的非同义单核苷酸多态性预测的研究进展 |
| Progress in Prediction of Disease-Associated Non-Synonymous SingleNucleotide Polymorphisms |
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| DOI： |
| 中文关键词: 非同义单核苷酸多态性 nsSNPs 预测 特征选择 分类器 |
| 英文关键词: Non-synonymous single nucleotide polymorphisms Prediction of disease-associated nsSNPs Attribute selection
methods Classifiers |
| 基金项目:国家自然科学基金项目（61171191）；江苏省自然科学基金项目（BK2010500） |
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| 中文摘要: |
| 单核苷酸多态性（single nucleotide polymorphism, SNPs）,即在基因组水平上由单个核苷酸的变异而引起的DNA序列多态性
变化，具体是指在DNA序列中的单个碱基的变异，其是人类基因组变异种最常见的一种。SNP研究最主要的目的就是对人类表
型变异遗传学的理解，尤其是关于人类遗传疾病的研究。而非同义单核苷酸多态性（nsSNPs）是SNPs 中的一种，主要是指处于编
码区会引起翻译后对应氨基酸序列变化的单核苷酸突变。因为nsSNPs 可能会对蛋白质的功能造成影响，被认为是造成人类遗传
病的主要原因。因此将与疾病相关的nsSNPs 从中性的nsSNPs中区分出来是很重要的。本文根据国内外与疾病相关nsSNPs 预测
的研究，分析了预测中所涉及到的特征属性，总结了对这些特征进行优化的特征选择方法，并概述了在预测过程中使用的各种分
类器。 |
| 英文摘要: |
| SNPs stands for single nucleotide polymorphism, which are single-nucleotide substitutions of one base for another in
the DNA sequence which represents the most frequent type of human population DNA variation. One of the most important motivations
to do SNPs research is to help understand the genetics of the human phenotype variation and especially the genetic base of complex
diseases. Non-synonymous single nucleotide polymorphisms (nsSNPs) are coding mutation that introduces amino acid changes in their
corresponding proteins. nsSNPs are believed to be the main cause of human genetic disease because they can affect protein function.
Therefore, it is important to distinguish the disease-related nsSNPs from those are neutral. Based on domestic and international research
about the prediction of disease-associated nsSNPs, the essay analyzed the characteristic attributes involved in prediction and summarized
the attribute selection methods that can extract the informative features improving the performance of classifier, meanwhile, an overview
of the various classifiers used in the prediction process. |
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