Integrated detection and population-genetic analysis of SNPs and copy number variation

Dissecting the genetic basis of disease risk requires measuring all forms of genetic variation, including SNPs and copy number variants (CNVs), and is enabled by accurate maps of their locations, frequencies and population-genetic properties. We designed a hybrid genotyping array (Affymetrix SNP 6.0) to simultaneously measure 906,600 SNPs and copy number at 1.8 million genomic locations. By characterizing 270 HapMap samples, we developed a map of human CNV (at 2-kb breakpoint resolution) informed by integer genotypes for 1,320 copy number polymorphisms (CNPs) that segregate at an allele frequency >1%. More than 80% of the sequence in previously reported CNV regions fell outside our estimated CNV boundaries, indicating that large (>100 kb) CNVs affect much less of the genome than initially reported. Approximately 80% of observed copy number differences between pairs of individuals were due to common CNPs with an allele frequency >5%, and more than 99% derived from inheritance rather than new mutation. Most common, diallelic CNPs were in strong linkage disequilibrium with SNPs, and most low-frequency CNVs segregated on specific SNP haplotypes.     

苯酚-硫酸法测定藏木香中多糖含量

采用传统的水煮醇沉法从藏木香中提取可溶性多糖,通过Sevag法脱蛋白后,以葡萄糖为对照品,使用苯酚-硫酸法测定多糖含量.结果表明,在波长486nm处测定吸光度,10-100μg/mL范围内吸光度与被测含量之间具有良好的线性关系,藏木香中多糖的含量为64.37%.     

甘青青兰挥发性成分GC/MS分析

目的：分离鉴定出甘青青兰（Dracocephalum tanguticum Maxim.）挥发油的化学成分.方法：用气相色谱-质谱（GC/MS）联用技术及峰面积归一化法测定各组分的相对含量.结果：共鉴定出23种化合物,占总色谱峰总面积的87.46%.结论：甘青青兰挥发油中的化学成分主要为[-]-反-松香芹乙酯和桉油精,两者分别占总挥发油中化学成分的60.30%和9.31%.     

带有时变时滞的中立型随机系统的鲁棒镇定和H_∞控制

研究了带有时变时滞的中立型随机系统的鲁棒镇定和H∞控制问题.利用Lyapunov泛函方法和It o^公式,基于状态反馈控制器,以线性矩阵不等式(LMI)形式给出了闭环系统鲁棒镇定及H∞控制的新方法.最后,数值算例说明了该方法的有效性.     

钢管相贯口变参数变结构建库与数据提取方法研究

零件的批处理和零件库的建立是计算机辅助设计的重要内容之一，以钢管相贯口为例应用UG的几种建库方法，通过分析电子表格、零件族、GRIP编程在变参变结构的复杂零件建库时存在的问题，提出了一种将零件族和GRIP编程相结合的建库方法来建立变参变结构的复杂零件的零件库。     

Mapping copy number variation by population-scale genome sequencing

Genomic structural variants (SVs) are abundant in humans, differing from other forms of variation in extent, origin and functional impact. Despite progress in SV characterization, the nucleotide resolution architecture of most SVs remains unknown. We constructed a map of unbalanced SVs (that is, copy number variants) based on whole genome DNA sequencing data from 185 human genomes, integrating evidence from complementary SV discovery approaches with extensive experimental validations. Our map encompassed 22,025 deletions and 6,000 additional SVs, including insertions and tandem duplications. Most SVs (53%) were mapped to nucleotide resolution, which facilitated analysing their origin and functional impact. We examined numerous whole and partial gene deletions with a genotyping approach and observed a depletion of gene disruptions amongst high frequency deletions. Furthermore, we observed differences in the size spectra of SVs originating from distinct formation mechanisms, and constructed a map of SV hotspots formed by common mechanisms. Our analytical framework and SV map serves as a resource for sequencing-based association studies.     

Discovery and genotyping of genome structural polymorphism by sequencing on a population scale

Accurate and complete analysis of genome variation in large populations will be required to understand the role of genome variation in complex disease. We present an analytical framework for characterizing genome deletion polymorphism in populations using sequence data that are distributed across hundreds or thousands of genomes. Our approach uses population-level concepts to reinterpret the technical features of sequence data that often reflect structural variation. In the 1000 Genomes Project pilot, this approach identified deletion polymorphism across 168 genomes (sequenced at 4 × average coverage) with sensitivity and specificity unmatched by other algorithms. We also describe a way to determine the allelic state or genotype of each deletion polymorphism in each genome; the 1000 Genomes Project used this approach to type 13,826 deletion polymorphisms (48-995,664 bp) at high accuracy in populations. These methods offer a way to relate genome structural polymorphism to complex disease in populations.     

论竞技健美操技术创新的概念与分类

该研究以竞技健美操技术创新为研究对象,采用文献资料法、案例分析法,对查阅的文献和案例进行综合的归纳分析,在研究竞技健美操技术创新发展现状基础上,结合其他项目技术创新的特点,对竞技健美操技术创新的概念进行了阐述;对竞技健美操技术创新进行了系统的分类.