The complete genome of an individual by massively parallel DNA sequencing

The association of genetic variation with disease and drug response, and improvements in nucleic acid technologies, have given great optimism for the impact of 'genomic medicine'. However, the formidable size of the diploid human genome, approximately 6 gigabases, has prevented the routine application of sequencing methods to deciphering complete individual human genomes. To realize the full potential of genomics for human health, this limitation must be overcome. Here we report the DNA sequence of a diploid genome of a single individual, James D. Watson, sequenced to 7.4-fold redundancy in two months using massively parallel sequencing in picolitre-size reaction vessels. This sequence was completed in two months at approximately one-hundredth of the cost of traditional capillary electrophoresis methods. Comparison of the sequence to the reference genome led to the identification of 3.3 million single nucleotide polymorphisms, of which 10,654 cause amino-acid substitution within the coding sequence. In addition, we accurately identified small-scale (2-40,000 base pair (bp)) insertion and deletion polymorphism as well as copy number variation resulting in the large-scale gain and loss of chromosomal segments ranging from 26,000 to 1.5 million base pairs. Overall, these results agree well with recent results of sequencing of a single individual by traditional methods. However, in addition to being faster and significantly less expensive, this sequencing technology avoids the arbitrary loss of genomic sequences inherent in random shotgun sequencing by bacterial cloning because it amplifies DNA in a cell-free system. As a result, we further demonstrate the acquisition of novel human sequence, including novel genes not previously identified by traditional genomic sequencing. This is the first genome sequenced by next-generation technologies. Therefore it is a pilot for the future challenges of 'personalized genome sequencing'.     

参数p(x)为分段线性函数时斯图谟刘维尔问题的格林函数及其定性性质

研究了当参数p(x)是区间[0,1]上的分段线性函数时,非线性斯图谟刘维尔方程边值问题的格林函数及其性质,并证明了相应边值问题解的积分公式.     

辽宁省应急物流架构现状的几点思考

介绍了国外应急物流的先进模式,并对辽宁省应急物流架构现状进行反思,在构建和完善辽宁应急物流体系方面提出了自己的看法和建议。     

基于色差分析的图像修复改进算法

逐块修复的图像修复算法对修复边缘敏感,目前普遍采用的基于等照度线的修复优先权确定方法并不能很好地区分图像的结构和纹理成分,使得修复效果依赖于图像掩码的初始边缘且对于纹理和结构高度混杂的区域不能有很好的修复效果.提出了一种基于色差分析的图像修复改进算法,根据待修复像素块与邻域像素块的像素值变化确定修复优先权.实验结果表明...     

口腔癌早期筛查方法的系统评价证据

目的 评价口腔癌早期诊断的系统评价证据及纳入系统评价的临床随机对照试验(RCT)的方法学质量.方法 文献检索Cochrane Library(2010年第4期)和Medline中有关口腔癌早期诊断的系统评价,并对系统评价纳入RCT的方法学质量进行评价.结果 共检索到Cochrane系统评价1篇,其他系统评价1篇,Coc...     

左旋聚乳酸纳米纤维膜的热处理研究

研究了热牵伸和热定型处理对静电纺丝左旋聚乳酸平行纳米纤维膜力学性能和微观结构的影响。拉伸试验表明,在100 ℃热空气条件下,沿纤维排列方向上牵伸300%、热定型10 min的纤维膜力学性能最佳,其抗拉强度和模量分别达到103 MPa和1.83 GPa。扫描及透射电子显微镜观察显示,经热牵伸后,纤维的直径随牵伸率的增加而减小,其致密及平行程度相应提高,纤维内部转变为垂直于纤维轴且平行排列的片晶结构。差示扫描量热分析结果表明,纤维膜的结晶度随牵伸率的增加而增大,随热定型时间先增加后减小。广角X射线衍射和小角X射线散射分析可知,纤维膜经热处理后的结晶为α型,其微晶尺寸及晶面间距均随牵伸率的增加而减小,随热定型时间先增加后减小,而纤维内部的针状微缺陷随着牵伸率的增加而变得更加狭长有序,使得纤维膜的力学性能得以提高。     

超声- GTA焊激励电压对CLAM钢焊缝组织和冲击性能的影响

将超声激励源对氩弧焊(GTA)电源调制以激发出电弧超声,通过电弧与工件的自耦合作用,将其引入到中国低活化马氏体钢(CLAMs)钢的焊接中,超声- GTA焊接电流、超声激励电压及组合依据经验恰当选取.试验结果及其对比分析表明:电弧超声引入可以有效地改善焊缝的组织与性能,通过选取适合的焊接-超声工艺参数组合,可以使CLAM...     

缺货厌恶下的供应链收益共享契约模型

收益共享契约是实现供应链系统绩效改善或完美协调的一种机制.在随机市场需求下,针对由制造商、分销商和零售商组成的三级供应链,考虑了零售商具有缺货厌恶决策偏好,建立了此时的供应链收益共享契约协调模型,分析了零售商的缺货厌恶对供应链系统的最优定购量、上游企业提供的批发价格以及供应链成员收益的影响.研究表明:在零售商具有缺货厌恶时,分销商提供的批发价格和收益分享份额均高于零售商为风险中性时分销商所提供的契约参数,且随着零售商缺货厌恶的增加而增加.零售商的缺货厌恶对制造商所提供的契约参数没有影响,但会影响到制造商的利润,且随着零售商缺货厌恶的增加而增加.最后用算例来验证了文中的有关结论.     

聚丙烯腈纤维预氧化过程中氧化反应和环化反应的动力学研究

采用差示扫描量热仪(DSC)研究了聚丙烯腈/衣糠酸共聚物纤维在氧化性气氛(空气)和非氧化性气氛(氩气)下环化反应和氧化反应受加热速率的影响,计算了不同气氛下的反应活化能.采用元素分析技术研究了不同温度下氧化反应速率的变化,分析了氧的扩散机制.研究结果表明:含氧气氛中的反应活化能高于惰性气氛中的反应活化能,预氧化初期整个...