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2010 IEEE International Conference on Bioinformatics and Biomedicine (BIBM)最新文献

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A new perspective of integrative genome-wide association analysis considering trans eSNP effect 考虑反式eSNP效应的全基因组关联分析新视角
Pub Date : 2010-12-01 DOI: 10.1109/BIBM.2010.5706543
Junho Kim, Doheon Lee
Most loci discovered through genome-wide association analyses are predicted to affect gene expression, the integrative approach of genome-wide analysis with gene expression data is becoming essential procedure for discovering genetic effect of disease development. Many studies have been performed to discover significant SNP-gene associations, but most of them are limited to consider only cis-associations and neglect trans-territory. In this study, we explored the effect of trans-eSNP associations that may underlie the alternation of gene expressions. Through the integrative genome-wide association analysis considering the entire SNP-gene associations, we identified numerous trans associations which are significantly associated with gene expression, even more than cis associations in quantity and significance. Our findings revealed the necessity of reconsidering trans-association effect from integrative genome-wide association analysis and provided novel insights to find undiscovered genetic causalities.
通过全基因组关联分析发现的大多数位点都预测会影响基因表达,全基因组分析与基因表达数据的整合方法正在成为发现疾病发展遗传效应的必要手段。许多研究已经发现了显著的snp基因关联,但大多数研究仅限于考虑顺式关联,而忽略了跨域关联。在这项研究中,我们探讨了跨esnp关联的影响,这可能是基因表达变化的基础。通过考虑整个snp基因关联的全基因组关联分析,我们发现了许多与基因表达显著相关的反式关联,在数量和意义上甚至超过了顺式关联。我们的研究结果揭示了从全基因组关联分析中重新考虑跨关联效应的必要性,并为发现未被发现的遗传因果关系提供了新的见解。
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引用次数: 1
alns — A searchable and filterable sequence alignment format alns -一个可搜索和可过滤的序列对齐格式
Pub Date : 2010-12-01 DOI: 10.1109/BIBM.2010.5706546
R. Leung, S. Tsui
Nucleotides and amino acids are basic building units of RNA, DNA and protein. Although intensive studies on understanding how the change of these building blocks affect the phenotypes of these biopolymers are ever increasing, many popular alignment formats are generated by pairwise comparision tools such as the Basic Local Alignment Search Tool (BLAST). These alignments are user friendly to researchers but are not convenient for searching, filtering and storage, in particular when there are thousands of alignments generated from highly conserved sequences. Here, we introduce a new alignment format, alns, to facilitate rapid and convenient association of genetic changes and similarity to other sources of information such as phenotypes, disease state, time, geography and taxonomy via simple spreadsheet functions. The format shall assist biologists from wide disciplines in knowledge discovery.
核苷酸和氨基酸是RNA、DNA和蛋白质的基本组成单位。尽管对这些构建块的变化如何影响这些生物聚合物表型的深入研究不断增加,但许多流行的比对格式是由成对比较工具(如基本局部比对搜索工具(BLAST))生成的。这些比对对研究人员来说是友好的,但不便于搜索、过滤和存储,特别是当有数千个高度保守的序列生成的比对时。在这里,我们引入了一种新的比对格式alns,通过简单的电子表格功能,可以快速方便地将遗传变化和相似性与其他信息来源(如表型、疾病状态、时间、地理和分类)联系起来。该格式将帮助来自广泛学科的生物学家进行知识发现。
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引用次数: 0
Solving training issues in the application of the wavelet transform to precisely analyze human body acceleration signals 应用小波变换对人体加速度信号进行精确分析,解决了训练中的问题
Pub Date : 2010-12-01 DOI: 10.1109/BIBM.2010.5706604
E. Martin
Within the field of medical informatics, the analysis of human body acceleration signals to examine gait patterns can provide valuable information for multiple health-related applications. In this paper, we study the suitability of the wavelet transform for the analysis of body acceleration signals, and propose useful guidelines to solve existing issues in this field (such as the need for training), thus enabling a smooth application of this signal processing tool in medical environments. Making use of these guidelines, we have successfully tested our approach to analyze body acceleration signals, delivering a rich characterization of different gait patterns, without the need for training.
在医学信息学领域,分析人体加速度信号以检查步态模式可以为多种健康相关应用提供有价值的信息。在本文中,我们研究了小波变换对人体加速度信号分析的适用性,并提出了有用的指导方针来解决该领域存在的问题(例如需要训练),从而使该信号处理工具在医疗环境中顺利应用。利用这些指导方针,我们已经成功地测试了我们的方法来分析身体加速度信号,在不需要训练的情况下提供不同步态模式的丰富特征。
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引用次数: 9
Hybrid SVM/CART classification of pathogenic species of bacterial meningitis with surface-enhanced Raman scattering 基于表面增强拉曼散射的细菌性脑膜炎病原菌的混合SVM/CART分类
Pub Date : 2010-12-01 DOI: 10.1109/BIBM.2010.5706600
Chung-Yueh Huang, Tsung-Heng Tsai, Bing-Cheng Wen, Chia-Wen Chung, Yung-Jui Li, Ya-Ching Chuang, Wen-Jie Lin, Li-Li Li, Juen-Kai Wang, Yuh‐Lin Wang, Chi-Hung Lin, Da-Wei Wang
Bacterial meningitis is still a life-threatening disease, and early diagnosis of pathogen can be crucial to improving survival rate. Using the surface-enhanced Raman scattering (SERS) platform developed by our group, the pathogens can be differentiated on the basis of their SERS spectra which are believed to related to their surface chemical components. We collected the SERS spectra of ten pathogens: Streptococcus pneumoniae(Spn), Streptococcus agalactiae (group B streptococcus, GBS), Staphylococcus aureus (Sa), Pseudomonas aeruginosae (Psa), Acinetobacter baumannii (Ab), Klebsiella pneumoniae (Kp), Neisseria meningitidis (Nm), Listeria monocy-togenes (Lm), Haemophilus influenzae (Hi), and Escherichia coli (E. coli). These samples were obtained from patients in National Taiwan University Hospital, and were believed to represent the real diversity of clinical pathogens. Using the support vector machine (SVM) method, the classification accuracy can achieve around 88%. However, we noted that SVM cannot distinguish between [E. coli, Kp] and [Sa, Hi] due to the fact that the global features of these two groups of pathogens are very similar. We therefore incorporated a classification tree method that can focus on local differences in classification rules. This improved the accuracy to 90%. To get a better understanding of the SERS signals, we also compared several other classification methods. In addition, rule extraction method which attempts to explain why classifier fail or succeed is also discussed. Our preliminary results are interesting, encouraging, and await more thorough investigation.
细菌性脑膜炎仍然是一种危及生命的疾病,病原的早期诊断对提高生存率至关重要。利用本小组开发的表面增强拉曼散射(SERS)平台,可以根据病原体的SERS光谱进行区分,认为这些光谱与病原体的表面化学成分有关。我们采集了10种病原菌的SERS光谱:肺炎链球菌(Spn)、无乳链球菌(B群链球菌,GBS)、金黄色葡萄球菌(Sa)、铜绿假单胞菌(Psa)、鲍曼不动杆菌(Ab)、肺炎克雷伯菌(Kp)、脑膜炎奈瑟菌(Nm)、单核增生李斯特菌(Lm)、流感嗜血杆菌(Hi)和大肠杆菌(E. coli)。这些样本来自台湾大学附属医院的病人,并被认为代表了临床病原体的真正多样性。使用支持向量机(SVM)方法,分类准确率可以达到88%左右。然而,我们注意到SVM不能区分[E。大肠杆菌,Kp]和[Sa, Hi],因为这两组病原体的全球特征非常相似。因此,我们采用了一种分类树方法,可以关注分类规则中的局部差异。这将准确率提高到90%。为了更好地理解SERS信号,我们还比较了其他几种分类方法。此外,还讨论了试图解释分类器失败或成功原因的规则提取方法。我们的初步结果是有趣的,令人鼓舞的,并等待更彻底的调查。
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引用次数: 3
Outcomes of gene association analysis of cancer microarray data are impacted by pre-processing algorithms 癌症微阵列数据的基因关联分析结果受到预处理算法的影响
Pub Date : 2010-12-01 DOI: 10.1109/BIBM.2010.5706568
N. Baskaran, C. Kwoh, K. Hui
Gene association analysis of cancer microarray data provides a wealth of information on gene expression patterns and cancer pathways to enhance the identification of potential biomarkers for cancer diagnosis, prognosis, and prediction of therapeutic responsiveness. However, achieving these biological/clinical objectives relies heavily on the functional capabilities and accuracy of the various analytical tools to mine these cancer microarray gene expression profiles. Many preprocessing algorithms exist for analyzing Affymetrix microarray gene expression data. Previous studies have evaluated these algorithms on their capabilities in accurately determining gene expression using a variety of spike-in as well as experimental data sets. However, variations in detecting differentially expressed genes between these different pre-processing algorithms on a single cancer dataset have not been done in a systems-level evaluation. In this study, we assessed the comparability and the level of variation between PLIER, GCRMA, RMA and MAS5 for their capability to detect differentially expressed genes.
癌症微阵列数据的基因关联分析提供了丰富的基因表达模式和癌症途径的信息,以增强对癌症诊断、预后和治疗反应性预测的潜在生物标志物的识别。然而,实现这些生物学/临床目标在很大程度上依赖于各种分析工具的功能和准确性,以挖掘这些癌症微阵列基因表达谱。目前已有多种预处理算法用于分析Affymetrix微阵列基因表达数据。以前的研究已经评估了这些算法在使用各种峰值和实验数据集准确确定基因表达方面的能力。然而,在单个癌症数据集上,这些不同的预处理算法之间检测差异表达基因的差异尚未在系统级评估中进行。在本研究中,我们评估了PLIER、GCRMA、RMA和MAS5检测差异表达基因的能力之间的可比性和差异水平。
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引用次数: 1
NetLoc: Network based protein localization prediction using protein-protein interaction and co-expression networks NetLoc:利用蛋白质相互作用和共表达网络进行基于网络的蛋白质定位预测
Pub Date : 2010-12-01 DOI: 10.1109/BIBM.2010.5706553
M. Ananda, Jianjun Hu
Recent studies showed that protein-protein interaction network based features can significantly improve the prediction of protein subcellular localization. However, it is unclear whether network prediction models or other types of protein-protein correlation networks would also improve localization prediction. We present NetLoc, a novel diffusion kernel-based logistic regression (KLR) algorithm for predicting protein subcellular localization using four types of protein networks including physical protein-protein interaction (PPPI) networks, genetic PPI networks (GPPI), mixed PPI networks (MPPI), and co-expression networks (COEXP). We applied NetLoc to yeast protein localization prediction. The results showed that protein networks can provide rich information for protein localization prediction, achieving prediction performance up to AUC score of 0.93. We also showed that networks with high connectivity and high percentage of interacting protein pairs targeting the same location lead to better prediction performance. We found that physical PPPI is better than GPPI which is better than COEXP in terms of localization prediction. The prediction performance (AUC) using the yeast PPPI network ranges between 0.71 and 0.93 for 7 locations. Compared to the previous network feature based prediction algorithm which achieved AUC scores of (0.49 and 0.52) on the yeast PPI network of the DIP database, NetLoc achieved significantly better overall performance with the AUC of 0.74.
近年来的研究表明,基于蛋白质-蛋白质相互作用网络的特征可以显著提高蛋白质亚细胞定位的预测。然而,目前尚不清楚网络预测模型或其他类型的蛋白质-蛋白质相关网络是否也能改善定位预测。我们提出了一种新的基于扩散核的逻辑回归(KLR)算法NetLoc,用于使用四种类型的蛋白质网络预测蛋白质亚细胞定位,包括物理蛋白质-蛋白质相互作用(PPPI)网络、遗传PPI网络(GPPI)、混合PPI网络(MPPI)和共表达网络(COEXP)。我们将NetLoc应用于酵母蛋白定位预测。结果表明,蛋白质网络可以为蛋白质定位预测提供丰富的信息,预测性能达到0.93的AUC分数。我们还表明,具有高连通性和针对同一位置的高比例相互作用蛋白质对的网络可以获得更好的预测性能。我们发现物理PPPI在定位预测方面优于GPPI, GPPI优于COEXP。酵母PPPI网络在7个地点的预测性能(AUC)在0.71 ~ 0.93之间。与之前基于网络特征的预测算法相比,NetLoc在DIP数据库酵母PPI网络上的AUC得分分别为(0.49和0.52),整体性能显著提高,AUC为0.74。
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引用次数: 19
A probabilistic framework for inferring ancestral genomic orders 推断祖先基因组顺序的概率框架
Pub Date : 2010-12-01 DOI: 10.1109/BIBM.2010.5706559
Jian Ma
We introduce a probabilistic framework for inferring contiguous ancestral regions. Our previous work, the inferCARs algorithm, is a method based on adjacencies between synteny blocks. However, the local parsimony procedure has the limitation that it ignores many adjacencies that are potentially possible to exist in the ancestors. In this paper, we introduce a probabilistic method for reconstructing ancestral orders. The essential part of this method is to predict the posterior probability of an adjacency occurring in the ancestor based on an extended Jukes-Cantor model for breakpoints. We implemented a program called inferCARsPro to reconstruct contiguous ancestral regions. Both simulation and real data application results are discussed.
我们引入了一个概率框架来推断连续的祖先区域。我们之前的工作,即intercars算法,是一种基于合成块之间邻接关系的方法。然而,局部简约过程的局限性在于它忽略了祖先中可能存在的许多邻接关系。本文介绍了一种重构祖先序列的概率方法。该方法的核心部分是基于扩展的Jukes-Cantor断点模型来预测在祖先节点上邻接发生的后验概率。我们实现了一个名为intercarspro的程序来重建连续的祖先区域。讨论了仿真和实际数据的应用结果。
{"title":"A probabilistic framework for inferring ancestral genomic orders","authors":"Jian Ma","doi":"10.1109/BIBM.2010.5706559","DOIUrl":"https://doi.org/10.1109/BIBM.2010.5706559","url":null,"abstract":"We introduce a probabilistic framework for inferring contiguous ancestral regions. Our previous work, the inferCARs algorithm, is a method based on adjacencies between synteny blocks. However, the local parsimony procedure has the limitation that it ignores many adjacencies that are potentially possible to exist in the ancestors. In this paper, we introduce a probabilistic method for reconstructing ancestral orders. The essential part of this method is to predict the posterior probability of an adjacency occurring in the ancestor based on an extended Jukes-Cantor model for breakpoints. We implemented a program called inferCARsPro to reconstruct contiguous ancestral regions. Both simulation and real data application results are discussed.","PeriodicalId":275098,"journal":{"name":"2010 IEEE International Conference on Bioinformatics and Biomedicine (BIBM)","volume":"38 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2010-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"131761087","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 27
Gene clustering by structural prior based local factor analysis model under Bayesian Ying-Yang harmony learning 贝叶斯阴阳和谐学习下基于结构先验的局部因子分析模型的基因聚类
Pub Date : 2010-12-01 DOI: 10.1109/BIBM.2010.5706655
Lei Shi, Shikui Tu, L. Xu
We propose a clustering algorithm based on a structural prior based Local Factor Analysis (spLFA) model under the Bayesian Ying-Yang harmony learning, which automatically determines the hidden dimensionalities during parameter learning, reduces the number of free parameters by projecting the mean vectors onto a low dimensional manifold, imposes the sparseness by a Normal-Jeffreys prior. Experiments on the diagnostic research dataset show that BYY-spLFA outperforms the k-means clustering and single-link hierarchical clustering. The experiments on a lymphoma cancer datset further indicate the BYY-spLFA is able to uncover the number of phenotypes correctly and cluster the phenotypes more accurately. In addition, we modify BYY-spLFA to implement supervised learning and preliminarily demonstrate its effectiveness on a Leukemia data for classification.
本文提出了一种基于结构先验的局部因子分析(spLFA)模型的聚类算法,该算法在参数学习过程中自动确定隐藏维数,通过将均值向量投影到低维流形上来减少自由参数的数量,通过Normal-Jeffreys先验来实现稀疏性。在诊断研究数据集上的实验表明,BYY-spLFA优于k-means聚类和单链接分层聚类。在一个淋巴瘤数据集上的实验进一步表明,BYY-spLFA能够正确地揭示表型的数量,并更准确地对表型进行聚类。此外,我们对BYY-spLFA进行了改进,实现了监督学习,并初步验证了其对白血病数据进行分类的有效性。
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引用次数: 1
Biomedical concept extraction using concept graphs and ontology-based mapping 使用概念图和基于本体的映射的生物医学概念提取
Pub Date : 2010-12-01 DOI: 10.1109/BIBM.2010.5706627
S. Bleik, Wei Xiong, Yiran Wang, Min Song
Assigning keywords to articles can be extremely costly. In this paper we propose a new approach to biomedical concept extraction using semantic features of concept graphs to help in automatic labeling of scientific publications. The proposed system extracts key concepts similar to author-provided keywords. We represent full-text documents by graphs and map biomedical terms to predefined ontology concepts. In addition to occurrence frequency weights, we use concept relation weights to rank potential key concepts. We compare our technique to that of KEA's, a state-of-the-art keyphrase extraction software. The results show that using the relations weight significantly improves the performance of concept extraction. The results also highlight the subjectivity of the concept extraction procedure as well as of its evaluation.
为文章分配关键词是非常昂贵的。本文提出了一种利用概念图的语义特征进行生物医学概念提取的新方法,以帮助科学出版物自动标注。提出的系统提取关键概念类似于作者提供的关键字。我们用图形表示全文文档,并将生物医学术语映射到预定义的本体概念。除了出现频率权重外,我们还使用概念关系权重对潜在的关键概念进行排序。我们将我们的技术与KEA的技术进行比较,KEA是一种最先进的关键词提取软件。结果表明,使用关系权值可以显著提高概念提取的性能。结果还突出了概念提取过程及其评价的主观性。
{"title":"Biomedical concept extraction using concept graphs and ontology-based mapping","authors":"S. Bleik, Wei Xiong, Yiran Wang, Min Song","doi":"10.1109/BIBM.2010.5706627","DOIUrl":"https://doi.org/10.1109/BIBM.2010.5706627","url":null,"abstract":"Assigning keywords to articles can be extremely costly. In this paper we propose a new approach to biomedical concept extraction using semantic features of concept graphs to help in automatic labeling of scientific publications. The proposed system extracts key concepts similar to author-provided keywords. We represent full-text documents by graphs and map biomedical terms to predefined ontology concepts. In addition to occurrence frequency weights, we use concept relation weights to rank potential key concepts. We compare our technique to that of KEA's, a state-of-the-art keyphrase extraction software. The results show that using the relations weight significantly improves the performance of concept extraction. The results also highlight the subjectivity of the concept extraction procedure as well as of its evaluation.","PeriodicalId":275098,"journal":{"name":"2010 IEEE International Conference on Bioinformatics and Biomedicine (BIBM)","volume":"23 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2010-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"128121291","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 6
A parameterless automatic spot detection method for cDNA microarray images cDNA微阵列图像的无参数自动斑点检测方法
Pub Date : 2010-12-01 DOI: 10.1109/BIBM.2010.5706596
Iman Rezaeian, L. Rueda
Gridding cDNA microarray images is a critical step in gene expression analysis, since any errors in this stage are propagated in future steps in the analysis. We propose a fully automatic approach to detect the locations of the spots. The approach first detects and corrects rotations in the sub-grids by an affine transformation, followed by a polynomial-time optimal multi-level thresholding algorithm that finds the positions of the spots. Additionally, a new validity index is proposed in order to find the correct number of spots in each sub-grid, followed by a refinement procedure used to improve the performance of the method. Extensive experiments on real-life microarray images show that the proposed method performs these tasks automatically and with very high accuracy.
对cDNA微阵列图像进行网格化是基因表达分析的关键步骤,因为这一阶段的任何错误都会在分析的后续步骤中传播。我们提出了一种全自动的方法来检测斑点的位置。该方法首先通过仿射变换检测和校正子网格中的旋转,然后使用多项式时间最优多级阈值算法找到斑点的位置。此外,提出了一种新的有效性指标,以便在每个子网格中找到正确的点数,然后通过改进程序来提高方法的性能。在实际微阵列图像上进行的大量实验表明,所提出的方法可以自动执行这些任务,并且具有很高的精度。
{"title":"A parameterless automatic spot detection method for cDNA microarray images","authors":"Iman Rezaeian, L. Rueda","doi":"10.1109/BIBM.2010.5706596","DOIUrl":"https://doi.org/10.1109/BIBM.2010.5706596","url":null,"abstract":"Gridding cDNA microarray images is a critical step in gene expression analysis, since any errors in this stage are propagated in future steps in the analysis. We propose a fully automatic approach to detect the locations of the spots. The approach first detects and corrects rotations in the sub-grids by an affine transformation, followed by a polynomial-time optimal multi-level thresholding algorithm that finds the positions of the spots. Additionally, a new validity index is proposed in order to find the correct number of spots in each sub-grid, followed by a refinement procedure used to improve the performance of the method. Extensive experiments on real-life microarray images show that the proposed method performs these tasks automatically and with very high accuracy.","PeriodicalId":275098,"journal":{"name":"2010 IEEE International Conference on Bioinformatics and Biomedicine (BIBM)","volume":"64 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2010-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"126505896","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 2
期刊
2010 IEEE International Conference on Bioinformatics and Biomedicine (BIBM)
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