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TRANSPORTATION INEQUALITIES FOR WEAKLY DEPENDENT SEQUENCES
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作者 马宇韬 《Acta Mathematica Scientia》 SCIE CSCD 2011年第4期1494-1502,共9页
In [3], they gave necessary and sufficient condition for T 1 C and then as applications T 1 C for weakly dependent sequences was established. In this note, based on Gozlan-L′eonard characterization for W 1 H -inequal... In [3], they gave necessary and sufficient condition for T 1 C and then as applications T 1 C for weakly dependent sequences was established. In this note, based on Gozlan-L′eonard characterization for W 1 H -inequalities, we extends this result to W 1 H inequalities. 展开更多
关键词 W 1 H inequality T p (C)-inequality weakly dependent sequences tensorization
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A Hybrid Estimation of Distribution Algorithm for Unrelated Parallel Machine Scheduling with Sequence-Dependent Setup Times 被引量:7
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作者 Ling Wang Shengyao Wang Xiaolong Zheng 《IEEE/CAA Journal of Automatica Sinica》 SCIE EI 2016年第3期235-246,246+236-245,共12页
A hybrid estimation of distribution algorithm (EDA) with iterated greedy (IG) search (EDA-IG) is proposed for solving the unrelated parallel machine scheduling problem with sequence-dependent setup times (UPMSP-SDST).... A hybrid estimation of distribution algorithm (EDA) with iterated greedy (IG) search (EDA-IG) is proposed for solving the unrelated parallel machine scheduling problem with sequence-dependent setup times (UPMSP-SDST). For makespan criterion, some properties about neighborhood search operators to avoid invalid search are derived. A probability model based on neighbor relations of jobs is built in the EDA-based exploration phase to generate new solutions by sampling the promising search region. Two types of deconstruction and reconstruction as well as an IG search are designed in the IG-based exploitation phase. Computational complexity of the algorithm is analyzed, and the effect of parameters is investigated by using the Taguchi method of design-of-experiment. Numerical tests on 1640 benchmark instances are carried out. The results and comparisons demonstrate the effectiveness of the EDA-IG. Especially, the bestknown solutions of 531 instances are updated. In addition, the effectiveness of the properties is also demonstrated by numerical comparisons. © 2014 Chinese Association of Automation. 展开更多
关键词 BENCHMARKING Computational complexity Design of experiments MACHINERY OPTIMIZATION SCHEDULING Taguchi methods
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Analysis of Saccharina japonica transcriptome using the high-throughput DNA sequencing technique and its vanadium-dependent haloperoxidase gene 被引量:1
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作者 LIANG Xiayuan WANG Xumin +6 位作者 CHI Shan WU Shuangxiu SUN Jing LIU Cui CHEN Shengping YU Jun LIU Tao 《Acta Oceanologica Sinica》 SCIE CAS CSCD 2014年第2期27-36,共10页
Saccharina is one of the most important cold-water living marine brown algal genera. In this study we ana-lyzed the transcriptome of S. japonica, which belongs to the 1 000 Plants (OneKP) Project, by using a next-ge... Saccharina is one of the most important cold-water living marine brown algal genera. In this study we ana-lyzed the transcriptome of S. japonica, which belongs to the 1 000 Plants (OneKP) Project, by using a next-generation high-throughput DNA sequencing technique. About 5.16 GB of raw data were generated, and 65 536 scaffolds with an average length of 454 bp were assembled with SOAP de novo assembly method. In total, 19 040 unigenes were identified by BLAST;25 734 scaffolds were clustered into 37 Gene ontology functional groups;6 760 scaffolds were classified into 25 COG categories, as well as 2 665 scaffolds that were assigned to 306 KEGG pathways. Majority of the unigenes exhibited more similarities to algae including brown algae and diatom than other cyanobacteria, marine diatom, and plant. Saccharina japonica has the outstanding capability to accumulate halogen such as Br and I via halogenation processes from seawater. We acquired 42 different vanadium-dependent haloperoxidases (vHPO) in S. japonica transcriptome data, including 5 segments of vanadium-dependent iodoperoxidase (vIPO) and 37 segments of vanadium-de-pendent bromoperoxidase (vBPO). Complicated analyses of identified fulllength S. japonica vBPO1 and S. japonica vBPO2 revealed the importance of vBPO among species of brown algae and the strong relationship between marine algal vBPOs and vIPOs. This study will enhance our understanding of the biological charac-teristics and economic values of S. japonica species. 展开更多
关键词 Saccharina japonica transcriptomic sequencing vanadium-dependent haloperoxidase phylogenic analysis
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Single Machine Scheduling with Time-Dependent Learning Effect and Non-Linear Past-Sequence-Dependent Setup Times 被引量:1
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作者 Yuling Yeh Chinyao Low Wen-Yi Lin 《Journal of Applied Mathematics and Physics》 2015年第1期10-15,共6页
This paper studies a single machine scheduling problem with time-dependent learning and setup times. Time-dependent learning means that the actual processing time of a job is a function of the sum of the normal proces... This paper studies a single machine scheduling problem with time-dependent learning and setup times. Time-dependent learning means that the actual processing time of a job is a function of the sum of the normal processing times of the jobs already scheduled. The setup time of a job is proportional to the length of the already processed jobs, that is, past-sequence-dependent (psd) setup time. We show that the addressed problem remains polynomially solvable for the objectives, i.e., minimization of the total completion time and minimization of the total weighted completion time. We also show that the smallest processing time (SPT) rule provides the optimum sequence for the addressed problem. 展开更多
关键词 Scheduling TIME-dependent Learning SETUP TIME Past-sequence-dependent Total COMPLETION TIME
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Learning Sequential and Structural Dependencies Between Nucleotides for RNA N6-Methyladenosine Site Identification
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作者 Guodong Li Bowei Zhao +4 位作者 Xiaorui Su Dongxu Li Yue Yang Zhi Zeng Lun Hu 《IEEE/CAA Journal of Automatica Sinica》 SCIE EI CSCD 2024年第10期2123-2134,共12页
N6-methyladenosine(m6A)is an important RNA methylation modification involved in regulating diverse biological processes across multiple species.Hence,the identification of m6A modification sites provides valuable insi... N6-methyladenosine(m6A)is an important RNA methylation modification involved in regulating diverse biological processes across multiple species.Hence,the identification of m6A modification sites provides valuable insight into the biological mechanisms of complex diseases at the post-transcriptional level.Although a variety of identification algorithms have been proposed recently,most of them capture the features of m6A modification sites by focusing on the sequential dependencies of nucleotides at different positions in RNA sequences,while ignoring the structural dependencies of nucleotides in their threedimensional structures.To overcome this issue,we propose a cross-species end-to-end deep learning model,namely CR-NSSD,which conduct a cross-domain representation learning process integrating nucleotide structural and sequential dependencies for RNA m6A site identification.Specifically,CR-NSSD first obtains the pre-coded representations of RNA sequences by incorporating the position information into single-nucleotide states with chaos game representation theory.It then constructs a crossdomain reconstruction encoder to learn the sequential and structural dependencies between nucleotides.By minimizing the reconstruction and binary cross-entropy losses,CR-NSSD is trained to complete the task of m6A site identification.Extensive experiments have demonstrated the promising performance of CR-NSSD by comparing it with several state-of-the-art m6A identification algorithms.Moreover,the results of cross-species prediction indicate that the integration of sequential and structural dependencies allows CR-NSSD to capture general features of m6A modification sites among different species,thus improving the accuracy of cross-species identification. 展开更多
关键词 Cross-domain reconstruction cross-species prediction N6-methyladenosine(m6A)modification site RNA sequence sequential and structural dependencies
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Dominance rules for single machine schedule with sequence dependent setup and due date
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作者 Xiaochuan LUO Xiao LIU +1 位作者 Chengen WANG Zhen LIU 《控制理论与应用(英文版)》 EI 2005年第4期364-370,共7页
Some dominance rules are proposed for the problems of scheduling N jobs on a single machine with due dates, sequence dependent setup times and no preemption. Two algorithms based on Ragatz' s branch and bound scheme ... Some dominance rules are proposed for the problems of scheduling N jobs on a single machine with due dates, sequence dependent setup times and no preemption. Two algorithms based on Ragatz' s branch and bound scheme are developed including the dominance rules where the objective is to minimize the maximum tardiness or the total tardiness. Computational experiments demonstrate the effectiveness of the dominance rules. 展开更多
关键词 Dominance role sequence dependent setup Due date Single machine schedule Branch and bound
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Identical Machine Scheduling Problem with Sequence-Dependent Setup Times: MILP Formulations Computational Study
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作者 Farouk Yalaoui Nhan Quy Nguyen 《American Journal of Operations Research》 2021年第1期15-34,共20页
This work aims to give a systematic construction of the two families of mixed-integer-linear-programming (MILP) formulations, which are graph-<span style="font-family:;" "=""> </span&... This work aims to give a systematic construction of the two families of mixed-integer-linear-programming (MILP) formulations, which are graph-<span style="font-family:;" "=""> </span><span style="font-family:Verdana;">based and sequence-based, of the well-known scheduling problem<img src="Edit_41010f25-7ca5-482c-89be-790fad4616e1.png" alt="" /></span><span style="font-family:Verdana;text-align:justify;">. Two upper bounds of job completion times are introduced. A numerical test result analysis is conducted with a two-fold objective 1) testing the performance of each solving methods, and 2) identifying and analyzing the tractability of an instance according to the instance structure in terms of the number of machines, of the jobs setup time lengths and of the jobs release date distribution over the scheduling horizon.</span> <div> <span style="font-family:Verdana;text-align:justify;"><br /> </span> </div> 展开更多
关键词 Identical Machine Scheduling Problem Release Date sequence dependent Setup Time
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A Linear Programming Approach for Parallel Cell Scheduling with Sequence-Dependent Setup Times
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作者 Tugba Yildiz Besim TurkerOzalp +2 位作者 Ilker Kucukoglu Alkın Yurtkuran Nursel Ozturk 《American Journal of Operations Research》 2014年第3期155-163,共9页
In this study, we consider the problem of scheduling a set of jobs with sequence-dependent setup times on a set of parallel production cells. The objective of this study is to minimize the total completion time. We no... In this study, we consider the problem of scheduling a set of jobs with sequence-dependent setup times on a set of parallel production cells. The objective of this study is to minimize the total completion time. We note that total customer demands for each type should be satisfied, and total required production time in each cell cannot exceed the capacity of the cell. This problem is formulated as an integer programming model and an interface is designed to provide integrity between data and software. Mathematical model is tested by both randomly generated data set and real-world data set from a factory that produce automotive components. As a result of this study, the solution which gives the best alternative production schedule is obtained. 展开更多
关键词 Production Scheduling Total Completion Time sequence dependent Setup Times
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Exponential Inequalities and Complete Convergence for Extended Negatively Dependent Random Variables 被引量:1
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作者 SHEN Ai-ting ZHU Hua-yan ZHANG Ying 《Chinese Quarterly Journal of Mathematics》 CSCD 2014年第3期344-355,共12页
Some exponential inequalities and complete convergence are established for extended negatively dependent(END) random variables. The inequalities extend and improve the results of Kim and Kim(On the exponential inequal... Some exponential inequalities and complete convergence are established for extended negatively dependent(END) random variables. The inequalities extend and improve the results of Kim and Kim(On the exponential inequality for negative dependent sequence.Communications of the Korean Mathematical Society, 2007, 22(2): 315-321) and Nooghabi and Azarnoosh(Exponential inequality for negatively associated random variables. Statistical Papers, 2009, 50(2): 419-428). We also obtain the convergence rate O(n-1/2ln1/2n) for the strong law of large numbers, which improves the corresponding ones of Kim and Kim,and Nooghabi and Azarnoosh. 展开更多
关键词 extended negatively dependent sequence exponential inequality complete convergence
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The maxima and sums of multivariate non-stationary Gaussian sequences 被引量:1
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作者 TAN Zhong-quan YANG Yang 《Applied Mathematics(A Journal of Chinese Universities)》 SCIE CSCD 2015年第2期197-209,共13页
Let {Xkl,…, Xkp, k≥ 1} be a p-dimensional standard (zero-means, unit-variances)non-stationary Gaussian vector sequence. In this work, the joint limit distribution of the maximaof {Xkl,…, Xkp, k 〉 1}, the incompl... Let {Xkl,…, Xkp, k≥ 1} be a p-dimensional standard (zero-means, unit-variances)non-stationary Gaussian vector sequence. In this work, the joint limit distribution of the maximaof {Xkl,…, Xkp, k 〉 1}, the incomplete maxima of those sequences subject to random failureand the partial sums of those sequences are obtained. 展开更多
关键词 Maxima sum multivariate Gaussian sequence non-stationary strongly dependent
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A Glivenko-Cantelli Theorem and Weak Convergence for Empirical Processes of Associated Sequences for Discrete Case
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作者 关忠 曲绍平 《Journal of Harbin Institute of Technology(New Series)》 EI CAS 1995年第1期1-4,共4页
Under the conditions on covariances of the original random variables, a Glivenko-Cantelli theorem for associated sequences and weak convergence for empirical processes of stationary associated sequences are obtained, ... Under the conditions on covariances of the original random variables, a Glivenko-Cantelli theorem for associated sequences and weak convergence for empirical processes of stationary associated sequences are obtained, assuming the random variables to be discrete. 展开更多
关键词 ss:Glivenko-Cantelli THEOREM ASSOCIATED sequence COVARIANCE structure positively dependENCE
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Hájek-Rényi-type Inequality for a Class of Random Variable Sequences and Its Applications
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作者 WANG XUE-JUN SHEN YAN HU SHU-HE YANG WEN-ZHI 《Communications in Mathematical Research》 CSCD 2011年第1期6-16,共11页
In this paper, we obtain the Hejek-Renyi-type inequality for a class of random variable sequences and give some applications for associated random variable sequences, strongly positive dependent stochastic sequences a... In this paper, we obtain the Hejek-Renyi-type inequality for a class of random variable sequences and give some applications for associated random variable sequences, strongly positive dependent stochastic sequences and martingale difference sequences which generalize and improve the results of Prakasa Rao and Soo published in Statist. Probab. Lett., 57(2002) and 78(2008). Using this result, we get the integrability of supremum and the strong law of large numbers for a class of random variable sequences. 展开更多
关键词 Hajek-Renyi-type inequality associated random variable sequence strongly positive dependent stochastic sequence martingale difference sequence
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STRONG LAW OF LARGE NUMBERS AND GROWTH RATE FOR NOD SEQUENCES
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作者 MA Song-lin WANG Xue-jun 《巢湖学院学报》 2015年第3期1-6,39,共7页
In the paper,we get the precise results of Hájek-Rényi type inequalities for the partial sums of negatively orthant dependent sequences,which improve the results of Theorem 3.1and Corollary 3.2 in Kim(2006)a... In the paper,we get the precise results of Hájek-Rényi type inequalities for the partial sums of negatively orthant dependent sequences,which improve the results of Theorem 3.1and Corollary 3.2 in Kim(2006)and the strong law of large numbers and strong growth rate for negatively orthant dependent sequences. 展开更多
关键词 negatively orthant dependent sequences strong law of large numbers growth rate
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构建要素、逻辑序位与路径依赖:农村集体经济从“锁定”到“进阶”实证
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作者 彭万勇 程华 王刚毅 《农业经济与管理》 CSSCI 北大核心 2024年第2期103-116,共14页
农村集体经济是农村集体成员利用集体所有的资源要素开展经济活动的一种经济形态,这意味着最大化资源要素效用是农村集体经济发展的应有之义,是农村与城市一道实现共同富裕的重要途径。文章从经济组织资源要素配置研究文献切题,缕析了... 农村集体经济是农村集体成员利用集体所有的资源要素开展经济活动的一种经济形态,这意味着最大化资源要素效用是农村集体经济发展的应有之义,是农村与城市一道实现共同富裕的重要途径。文章从经济组织资源要素配置研究文献切题,缕析了农村集体经济发展必备资源要素,并基于案例分析提出打开“黑箱”的逻辑线索,即“开眼”识资源、“格物”纠序位、“优术”明道路“三步进阶”理论假说。同时利用收集的案例数据,依次分析地理区位、制度(政策)、带头人(企业家精神)对农村集体经济发展的作用。结果表明,农村集体经济高质量发展的要素构成中,存在普适性的“地理区位→制度(政策)→带头人(企业家精神)→资本→技术→劳动力→土地”排列逻辑序位,不同序位的资源要素内生经济发展路径依赖。认为坚持最优序位要素本位、依赖精英农民、要素序位纠偏、精准立地最优序位要素引入外部要素是集体经济高质量发展良性路径依赖的四种表现,强化带头人能力提升、建立发展资源县域基础数据库、建立资源要素对接响应及纠偏机制等措施有助于推动农村集体经济高质量发展。 展开更多
关键词 农村集体经济 三步进阶 构建序位 路径依赖
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考虑序列相关准备时间的分布式柔性作业车间调度研究
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作者 王有远 董博文 《工业工程》 2024年第3期78-86,共9页
针对考虑序列相关准备时间的分布式柔性作业车间调度问题,提出以最小化最大完工时间为优化目标的混合整数线性规划模型,并提出一种改进遗传算法。采用基于负荷均衡的种群初始化方法提高初始种群质量,根据问题特性构造6个局部扰动算子,... 针对考虑序列相关准备时间的分布式柔性作业车间调度问题,提出以最小化最大完工时间为优化目标的混合整数线性规划模型,并提出一种改进遗传算法。采用基于负荷均衡的种群初始化方法提高初始种群质量,根据问题特性构造6个局部扰动算子,设计多重局部扰动策略提高算法的局部搜索能力。通过扩展柔性作业车间调度基准生成测试算例,使用正交实验确定算法参数。实验结果表明,所提改进策略能够有效提高算法性能,求解结果优于对比算法,验证了调度模型和所提算法的可行性和有效性。 展开更多
关键词 分布式柔性作业车间调度 序列相关准备时间 遗传算法 最大完工时间
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融合词语语义与标签依赖的隐式篇章关系识别
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作者 吕国英 郭校金 贾荣荣 《软件导刊》 2024年第4期1-7,共7页
中文隐式篇章关系识别旨在推断出两个论元间的篇章关系类型。然而,现有的方法往往忽略了论元中词语所蕴含的关键信息,并且仅考虑单个层级内的篇章关系类型,忽略了各层级间篇章关系的依赖关联。鉴于此,提出融合词语语义和标签依赖的方法... 中文隐式篇章关系识别旨在推断出两个论元间的篇章关系类型。然而,现有的方法往往忽略了论元中词语所蕴含的关键信息,并且仅考虑单个层级内的篇章关系类型,忽略了各层级间篇章关系的依赖关联。鉴于此,提出融合词语语义和标签依赖的方法,以序列生成的方式实现篇章关系识别,先根据相似度权重将词向量嵌入到字编码表示中,应用字词对齐注意力机制强调关键字、词信息,再采用标签注意力编码从蕴含词语语义的论元表示和篇章关系表示中获取篇章关系依赖性的上下文表示,以自下而上的方式预测顶层的篇章关系类型。此外,构建面向阅读理解篇章的篇章关系数据集,并在该数据集上展开实验,结果显示隐式篇章关系识别准确率和F1值分别达到74.19%和73.81%,最终验证了该方法的有效性。 展开更多
关键词 隐式篇章关系 词语语义 标签依赖 序列生成
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雨生红球藻钙依赖蛋白激酶(CDPK)家族鉴定与表达分析 被引量:1
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作者 李亚男 张豪杰 +7 位作者 梁梦静 罗涛 李旺宁 张春辉 季春丽 李润植 薛金爱 崔红利 《生物技术通报》 CAS CSCD 北大核心 2024年第2期300-312,共13页
【目的】钙依赖蛋白激酶(CDPK或CPK)广泛参与植物生长发育和环境胁迫响应。为探究CDPK基因在雨生红球藻(Haematococcus pluvialis)生长发育及虾青素积累中的功能,对HpCDPK基因家族进行鉴定和表达分析。【方法】利用生物信息学方法鉴定... 【目的】钙依赖蛋白激酶(CDPK或CPK)广泛参与植物生长发育和环境胁迫响应。为探究CDPK基因在雨生红球藻(Haematococcus pluvialis)生长发育及虾青素积累中的功能,对HpCDPK基因家族进行鉴定和表达分析。【方法】利用生物信息学方法鉴定雨生红球藻HpCDPK基因家族成员,分析其编码蛋白的理化特性、系统进化、保守基序和功能结构域,以及缺氮等胁迫条件下HpCDPK成员基因的表达谱。【结果】结果表明,共鉴定7个HpCDPK基因家族成员,所有HpCDPK蛋白都含有典型EF-hand基序和蛋白激酶结构域。系统发育分析表明,这些HpCDPK与来自莱茵衣藻的CrCDPK聚为一类,与高等植物拟南芥的AtCDPK分开,暗示在进化过程中发生了种属特异性的基因复制事件。转录组数据分析表明,HpCDPK基因表达受到多种胁迫诱导,其中HpCDPK7基因转录水平在缺氮条件下上调最为明显。此外,HpCDPK与类胡萝卜素合成相关基因的表达相关性分析结果显示,HpCDPK与多个类胡萝卜素合成相关基因表达密切关联,特别是HpCDPK2与虾青素合成关键基因(BKT和BCH)的表达显著正相关(P<0.05)。【结论】本研究鉴定了7个HpCDPK基因,HpCDPK7基因在缺氮条件下的表达上调最为明显,HpCDPK2可能在类胡萝卜素及虾青素合成积累中发挥重要调控作用。研究结果为后续深入解析HpCDPK介导雨生红球藻胁迫响应和类胡萝卜素合成积累的功能及分子机制提供参考依据。 展开更多
关键词 雨生红球藻 钙依赖性蛋白激酶 序列分析 表达模式 非生物逆境
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基于实际触发角响应的连续换相失败抑制方法
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作者 王玉麟 李晓华 +3 位作者 李书勇 郭亚勋 汪娟娟 汪旭辉 《电网技术》 EI CSCD 北大核心 2024年第6期2632-2641,I0115-I0117,共13页
针对逆变侧交流故障下高压直流(line commutated converter-high voltage direct current,LCC-HVDC)输电系统易引发连续换相失败问题,该文分阶段分析了连续换相失败的产生机理。明确了当产生触发角偏差后,直流电流调节效果与实际触发角... 针对逆变侧交流故障下高压直流(line commutated converter-high voltage direct current,LCC-HVDC)输电系统易引发连续换相失败问题,该文分阶段分析了连续换相失败的产生机理。明确了当产生触发角偏差后,直流电流调节效果与实际触发角不匹配是连续换相失败的重要诱因。同时不对称故障后,负序分量通过极控、阀控两级控制系统对实际触发角造成的影响,增加连续换相失败的风险。因此提出了一种基于实际触发角响应的连续换相失败抑制方法,通过实际触发角修正整流侧电流指令值。与此同时,该方法通过陷波器降低负序电流对极控层触发角指令值的影响,通过相序解耦控制器和换相电压相位补偿降低负序电压对阀控层触发角实际值的影响。该方法能实现动态、自适应的电流指令值调整,提升恢复过程中直流电流与实际触发角的匹配度,提升直流系统抵御连续换相失败能力。在CIGRE标准测试模型和实际工程模型中,验证了理论分析的正确性和优化方法的有效性。 展开更多
关键词 连续换相失败 实际触发角 低压限流控制 锁相环 负序分量
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有限相依随机序列的非贝叶斯变点最优监测
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作者 韩东 宗福季 《应用概率统计》 CSCD 北大核心 2024年第2期277-286,共10页
本文研究了有限相依样本序列的非贝叶斯变点检测问题.通过引入非负动态随机控制线,我们不仅构造并证明了两个最优控制图,而且还得到了比原定义更容易计算的Lorden测度和Pollak测度的最小值的表达式.
关键词 最优控制图 非贝叶斯变点监测 相依样本序列
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全外测序联合拷贝数变异检测在遗传性耳聋的应用
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作者 张远辉 林颖 +2 位作者 陈艺文 刘小萍 于锋 《中华耳科学杂志》 CSCD 北大核心 2024年第1期83-87,共5页
目的探讨全外显子测序(WES)联合拷贝数变异(CNV)检测在遗传性耳聋中的临床应用价值,并加深对CNV的认识。方法选取广州市红十字会医院耳鼻咽喉头颈外科就诊的双耳中度感音神经性聋患儿,无家族遗传史、用药史,完善内镜、影像学、主观和客... 目的探讨全外显子测序(WES)联合拷贝数变异(CNV)检测在遗传性耳聋中的临床应用价值,并加深对CNV的认识。方法选取广州市红十字会医院耳鼻咽喉头颈外科就诊的双耳中度感音神经性聋患儿,无家族遗传史、用药史,完善内镜、影像学、主观和客观听力学等检查,采集外周血样本,行WES寻找致聋原因并验证。结果患儿无家族遗传史、耳毒性药物用药史等,听性脑干反应阈值、ASSR及纯音听阈测听提示双侧中度感音神经性聋。在该患儿全外显子组发现12个纯合变异,分别定位于1(CR1基因,剪接变异)、5(ZSWIM6基因、SMN1基因,同义突变)、6(ATXN1基因,框内缺失突变;TENT5A基因,框内插入突变)、7(CFTR基因,内含子)、8(TG,启动子)、9(PRDM12基因,框内缺失突变)、10(TUBGCP2基因,剪接变异)、11(TENM4基因,剪接变异)、15(STRC基因,缺失)、16(ABCC11基因,错义变异)号染色体。根据美国医学遗传学与基因组学学会指南、综合病史分析,只有STRC基因NM_153700.2:EX1-EX29E Del变异为致病变异,其余变异为良性或可能良性。多重链接探针扩增技术对靶序列进行验证,结果证实。结论本例患儿为DFNB16(OMIM:603720)的STRC基因变异导致双耳中度感音神经性聋。临床诊疗中,可根据病史,选择不同深度、广度的检测技术;加强耳科医师对CNV引起遗传性耳聋的认识。 展开更多
关键词 全外显子测序 拷贝数变异 感音神经性耳聋 多重链接探针扩增技术
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