895 resultados para sequence data mining


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In this talk, I will describe various computational modelling and data mining solutions that form the basis of how the office of Deputy Head of Department (Resources) works to serve you. These include lessons I learn about, and from, optimisation issues in resource allocation, uncertainty analysis on league tables, modelling the process of winning external grants, and lessons we learn from student satisfaction surveys, some of which I have attempted to inject into our planning processes.

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Le glaucome est un groupe hétérogène de maladies qui sont caractérisées par l’apoptose des cellules ganglionnaires de la rétine et la dégénérescence progressive du nerf optique. Il s’agit de la première cause de cécité irréversible, qui touche environ 60 millions de personnes dans le monde. Sa forme la plus commune est le glaucome à angle ouvert (GAO), un trouble polygénique causé principalement par une prédisposition génétique, en interaction avec d’autres facteurs de risque tels que l’âge et la pression intraoculaire élevée (PIO). Le GAO est une maladie génétique complexe, bien que certaines formes sévères sont autosomiques dominantes. Dix-sept loci ont été liés à la maladie et acceptés par la « Human Genome Organisation » (HUGO) et cinq gènes ont été identifiés à ces loci (MYOC, OPTN, WDR36, NTF4, ASB10). Récemment, des études d’association sur l’ensemble du génome ont identifié plus de 20 facteurs de risque fréquents, avec des effets relativement faibles. Depuis plus de 50 ans, notre équipe étudie 749 membres de la grande famille canadienne-française CA où la mutation MYOCK423E cause une forme autosomale dominante de GAO dont l’âge de début est fortement variable. Premièrement, il a été montré que cette variabilité de l’âge de début de l’hypertension intraoculaire possède une importante composante génétique causée par au moins un gène modificateur. Ce modificateur interagit avec la mutation primaire et altère la sévérité du glaucome chez les porteurs de MYOCK423E. Un gène modificateur candidat WDR36 a été génotypé dans 2 grandes familles CA et BV. Les porteurs de variations non-synonymes de WDR36 ainsi que de MYOCK423E de la famille CA ont montré une tendance à développer la maladie plus jeune. Un outil de forage de données a été développé pour représenter des informations connues relatives à la maladie et faciliter la priorisation des gènes candidats. Cet outil a été appliqué avec succès à la dépression bipolaire et au glaucome. La suite du projet consiste à finaliser un balayage de génome sur la famille CA et à séquencer les loci afin d’identifier les variations modificatrices du glaucome. Éventuellement, ces variations permettront d’identifier les individus dont le glaucome risque d’être plus agressif.

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Internet users consume online targeted advertising based on information collected about them and voluntarily share personal information in social networks. Sensor information and data from smart-phones is collected and used by applications, sometimes in unclear ways. As it happens today with smartphones, in the near future sensors will be shipped in all types of connected devices, enabling ubiquitous information gathering from the physical environment, enabling the vision of Ambient Intelligence. The value of gathered data, if not obvious, can be harnessed through data mining techniques and put to use by enabling personalized and tailored services as well as business intelligence practices, fueling the digital economy. However, the ever-expanding information gathering and use undermines the privacy conceptions of the past. Natural social practices of managing privacy in daily relations are overridden by socially-awkward communication tools, service providers struggle with security issues resulting in harmful data leaks, governments use mass surveillance techniques, the incentives of the digital economy threaten consumer privacy, and the advancement of consumergrade data-gathering technology enables new inter-personal abuses. A wide range of fields attempts to address technology-related privacy problems, however they vary immensely in terms of assumptions, scope and approach. Privacy of future use cases is typically handled vertically, instead of building upon previous work that can be re-contextualized, while current privacy problems are typically addressed per type in a more focused way. Because significant effort was required to make sense of the relations and structure of privacy-related work, this thesis attempts to transmit a structured view of it. It is multi-disciplinary - from cryptography to economics, including distributed systems and information theory - and addresses privacy issues of different natures. As existing work is framed and discussed, the contributions to the state-of-theart done in the scope of this thesis are presented. The contributions add to five distinct areas: 1) identity in distributed systems; 2) future context-aware services; 3) event-based context management; 4) low-latency information flow control; 5) high-dimensional dataset anonymity. Finally, having laid out such landscape of the privacy-preserving work, the current and future privacy challenges are discussed, considering not only technical but also socio-economic perspectives.

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Discovery Driven Analysis (DDA) is a common feature of OLAP technology to analyze structured data. In essence, DDA helps analysts to discover anomalous data by highlighting 'unexpected' values in the OLAP cube. By giving indications to the analyst on what dimensions to explore, DDA speeds up the process of discovering anomalies and their causes. However, Discovery Driven Analysis (and OLAP in general) is only applicable on structured data, such as records in databases. We propose a system to extend DDA technology to semi-structured text documents, that is, text documents with a few structured data. Our system pipeline consists of two stages: first, the text part of each document is structured around user specified dimensions, using semi-PLSA algorithm; then, we adapt DDA to these fully structured documents, thus enabling DDA on text documents. We present some applications of this system in OLAP analysis and show how scalability issues are solved. Results show that our system can handle reasonable datasets of documents, in real time, without any need for pre-computation.

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We present the NumbersWithNames program which performs data-mining on the Encyclopedia of Integer Sequences to find interesting conjectures in number theory. The program forms conjectures by finding empirical relationships between a sequence chosen by the user and those in the Encyclopedia. Furthermore, it transforms the chosen sequence into another set of sequences about which conjectures can also be formed. Finally, the program prunes and sorts the conjectures so that themost plausible ones are presented first. We describe here the many improvements to the previous Prolog implementation which have enabled us to provide NumbersWithNames as an online program. We also present some new results from using NumbersWithNames, including details of an automated proof plan of a conjecture NumbersWithNames helped to discover.

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C3S2E '16 Proceedings of the Ninth International C* Conference on Computer Science & Software Engineering

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Oysters play an important role in estuarine and coastal marine habitats, where the majority of humans live. In these ecosystems, environmental degradation is substantial, and oysters must cope with highly dynamic and stressful environmental constraints during their lives in the intertidal zone. The availability of the genome sequence of the Pacific oyster Crassostrea gigas represents a unique opportunity for a comprehensive assessment of the signal transduction pathways that the species has developed to deal with this unique habitat. We performed an in silico analysis to identify, annotate and classify protein kinases in C. gigas, according to their kinase domain taxonomy classification, and compared with kinome already described in other animal species. The C. gigas kinome consists of 371 protein kinases, making it closely related to the sea urchin kinome, which has 353 protein kinases. The absence of gene redundancy in some groups of the C. gigas kinome may simplify functional studies of protein kinases. Through data mining of transcriptomes in C. gigas, we identified part of the kinome which may be central during development and may play a role in response to various environmental factors. Overall, this work contributes to a better understanding of key sensing pathways that may be central for adaptation to a highly dynamic marine environment.

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La intención del proyecto es mostrar las diferentes características que ofrece Oracle en el campo de la minería de datos, con la finalidad de saber si puede ser una plataforma apta para la investigación y la educación en la universidad. En la primera parte del proyecto se estudia la aplicación “Oracle Data Miner” y como, mediante un flujo de trabajo visual e intuitivo, pueden aplicarse las distintas técnicas de minería (clasificación, regresión, clustering y asociación). Para mostrar la ejecución de estas técnicas se han usado dataset procedentes de la universidad de Irvine. Con ello se ha conseguido observar el comportamiento de los distintos algoritmos en situaciones reales. Para cada técnica se expone como evaluar su fiabilidad y como interpretar los resultados que se obtienen a partir de su aplicación. También se muestra la aplicación de las técnicas mediante el uso del lenguaje PL/SQL. Gracias a ello podemos integrar la minería de datos en nuestras aplicaciones de manera sencilla. En la segunda parte del proyecto, se ha elaborado un prototipo de una aplicación que utiliza la minería de datos, en concreto la clasificación para obtener el diagnóstico y la probabilidad de que un tumor de mama sea maligno o benigno, a partir de los resultados de una citología.

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Sequences of timestamped events are currently being generated across nearly every domain of data analytics, from e-commerce web logging to electronic health records used by doctors and medical researchers. Every day, this data type is reviewed by humans who apply statistical tests, hoping to learn everything they can about how these processes work, why they break, and how they can be improved upon. To further uncover how these processes work the way they do, researchers often compare two groups, or cohorts, of event sequences to find the differences and similarities between outcomes and processes. With temporal event sequence data, this task is complex because of the variety of ways single events and sequences of events can differ between the two cohorts of records: the structure of the event sequences (e.g., event order, co-occurring events, or frequencies of events), the attributes about the events and records (e.g., gender of a patient), or metrics about the timestamps themselves (e.g., duration of an event). Running statistical tests to cover all these cases and determining which results are significant becomes cumbersome. Current visual analytics tools for comparing groups of event sequences emphasize a purely statistical or purely visual approach for comparison. Visual analytics tools leverage humans' ability to easily see patterns and anomalies that they were not expecting, but is limited by uncertainty in findings. Statistical tools emphasize finding significant differences in the data, but often requires researchers have a concrete question and doesn't facilitate more general exploration of the data. Combining visual analytics tools with statistical methods leverages the benefits of both approaches for quicker and easier insight discovery. Integrating statistics into a visualization tool presents many challenges on the frontend (e.g., displaying the results of many different metrics concisely) and in the backend (e.g., scalability challenges with running various metrics on multi-dimensional data at once). I begin by exploring the problem of comparing cohorts of event sequences and understanding the questions that analysts commonly ask in this task. From there, I demonstrate that combining automated statistics with an interactive user interface amplifies the benefits of both types of tools, thereby enabling analysts to conduct quicker and easier data exploration, hypothesis generation, and insight discovery. The direct contributions of this dissertation are: (1) a taxonomy of metrics for comparing cohorts of temporal event sequences, (2) a statistical framework for exploratory data analysis with a method I refer to as high-volume hypothesis testing (HVHT), (3) a family of visualizations and guidelines for interaction techniques that are useful for understanding and parsing the results, and (4) a user study, five long-term case studies, and five short-term case studies which demonstrate the utility and impact of these methods in various domains: four in the medical domain, one in web log analysis, two in education, and one each in social networks, sports analytics, and security. My dissertation contributes an understanding of how cohorts of temporal event sequences are commonly compared and the difficulties associated with applying and parsing the results of these metrics. It also contributes a set of visualizations, algorithms, and design guidelines for balancing automated statistics with user-driven analysis to guide users to significant, distinguishing features between cohorts. This work opens avenues for future research in comparing two or more groups of temporal event sequences, opening traditional machine learning and data mining techniques to user interaction, and extending the principles found in this dissertation to data types beyond temporal event sequences.

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Computer simulation programs are essential tools for scientists and engineers to understand a particular system of interest. As expected, the complexity of the software increases with the depth of the model used. In addition to the exigent demands of software engineering, verification of simulation programs is especially challenging because the models represented are complex and ridden with unknowns that will be discovered by developers in an iterative process. To manage such complexity, advanced verification techniques for continually matching the intended model to the implemented model are necessary. Therefore, the main goal of this research work is to design a useful verification and validation framework that is able to identify model representation errors and is applicable to generic simulators. The framework that was developed and implemented consists of two parts. The first part is First-Order Logic Constraint Specification Language (FOLCSL) that enables users to specify the invariants of a model under consideration. From the first-order logic specification, the FOLCSL translator automatically synthesizes a verification program that reads the event trace generated by a simulator and signals whether all invariants are respected. The second part consists of mining the temporal flow of events using a newly developed representation called State Flow Temporal Analysis Graph (SFTAG). While the first part seeks an assurance of implementation correctness by checking that the model invariants hold, the second part derives an extended model of the implementation and hence enables a deeper understanding of what was implemented. The main application studied in this work is the validation of the timing behavior of micro-architecture simulators. The study includes SFTAGs generated for a wide set of benchmark programs and their analysis using several artificial intelligence algorithms. This work improves the computer architecture research and verification processes as shown by the case studies and experiments that have been conducted.

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Thanks to the advanced technologies and social networks that allow the data to be widely shared among the Internet, there is an explosion of pervasive multimedia data, generating high demands of multimedia services and applications in various areas for people to easily access and manage multimedia data. Towards such demands, multimedia big data analysis has become an emerging hot topic in both industry and academia, which ranges from basic infrastructure, management, search, and mining to security, privacy, and applications. Within the scope of this dissertation, a multimedia big data analysis framework is proposed for semantic information management and retrieval with a focus on rare event detection in videos. The proposed framework is able to explore hidden semantic feature groups in multimedia data and incorporate temporal semantics, especially for video event detection. First, a hierarchical semantic data representation is presented to alleviate the semantic gap issue, and the Hidden Coherent Feature Group (HCFG) analysis method is proposed to capture the correlation between features and separate the original feature set into semantic groups, seamlessly integrating multimedia data in multiple modalities. Next, an Importance Factor based Temporal Multiple Correspondence Analysis (i.e., IF-TMCA) approach is presented for effective event detection. Specifically, the HCFG algorithm is integrated with the Hierarchical Information Gain Analysis (HIGA) method to generate the Importance Factor (IF) for producing the initial detection results. Then, the TMCA algorithm is proposed to efficiently incorporate temporal semantics for re-ranking and improving the final performance. At last, a sampling-based ensemble learning mechanism is applied to further accommodate the imbalanced datasets. In addition to the multimedia semantic representation and class imbalance problems, lack of organization is another critical issue for multimedia big data analysis. In this framework, an affinity propagation-based summarization method is also proposed to transform the unorganized data into a better structure with clean and well-organized information. The whole framework has been thoroughly evaluated across multiple domains, such as soccer goal event detection and disaster information management.

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Ensemble Stream Modeling and Data-cleaning are sensor information processing systems have different training and testing methods by which their goals are cross-validated. This research examines a mechanism, which seeks to extract novel patterns by generating ensembles from data. The main goal of label-less stream processing is to process the sensed events to eliminate the noises that are uncorrelated, and choose the most likely model without over fitting thus obtaining higher model confidence. Higher quality streams can be realized by combining many short streams into an ensemble which has the desired quality. The framework for the investigation is an existing data mining tool. First, to accommodate feature extraction such as a bush or natural forest-fire event we make an assumption of the burnt area (BA*), sensed ground truth as our target variable obtained from logs. Even though this is an obvious model choice the results are disappointing. The reasons for this are two: One, the histogram of fire activity is highly skewed. Two, the measured sensor parameters are highly correlated. Since using non descriptive features does not yield good results, we resort to temporal features. By doing so we carefully eliminate the averaging effects; the resulting histogram is more satisfactory and conceptual knowledge is learned from sensor streams. Second is the process of feature induction by cross-validating attributes with single or multi-target variables to minimize training error. We use F-measure score, which combines precision and accuracy to determine the false alarm rate of fire events. The multi-target data-cleaning trees use information purity of the target leaf-nodes to learn higher order features. A sensitive variance measure such as f-test is performed during each node’s split to select the best attribute. Ensemble stream model approach proved to improve when using complicated features with a simpler tree classifier. The ensemble framework for data-cleaning and the enhancements to quantify quality of fitness (30% spatial, 10% temporal, and 90% mobility reduction) of sensor led to the formation of streams for sensor-enabled applications. Which further motivates the novelty of stream quality labeling and its importance in solving vast amounts of real-time mobile streams generated today.

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Clustering data streams is an important task in data mining research. Recently, some algorithms have been proposed to cluster data streams as a whole, but just few of them deal with multivariate data streams. Even so, these algorithms merely aggregate the attributes without touching upon the correlation among them. In order to overcome this issue, we propose a new framework to cluster multivariate data streams based on their evolving behavior over time, exploring the correlations among their attributes by computing the fractal dimension. Experimental results with climate data streams show that the clusters' quality and compactness can be improved compared to the competing method, leading to the thoughtfulness that attributes correlations cannot be put aside. In fact, the clusters' compactness are 7 to 25 times better using our method. Our framework also proves to be an useful tool to assist meteorologists in understanding the climate behavior along a period of time.

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Ochnaceae s.str. (Malpighiales) are a pantropical family of about 500 species and 27 genera of almost exclusively woody plants. Infrafamilial classification and relationships have been controversial partially due to the lack of a robust phylogenetic framework. Including all genera except Indosinia and Perissocarpa and DNA sequence data for five DNA regions (ITS, matK, ndhF, rbcL, trnL-F), we provide for the first time a nearly complete molecular phylogenetic analysis of Ochnaceae s.l. resolving most of the phylogenetic backbone of the family. Based on this, we present a new classification of Ochnaceae s.l., with Medusagynoideae and Quiinoideae included as subfamilies and the former subfamilies Ochnoideae and Sauvagesioideae recognized at the rank of tribe. Our data support a monophyletic Ochneae, but Sauvagesieae in the traditional circumscription is paraphyletic because Testulea emerges as sister to the rest of Ochnoideae, and the next clade shows Luxemburgia+Philacra as sister group to the remaining Ochnoideae. To avoid paraphyly, we classify Luxemburgieae and Testuleeae as new tribes. The African genus Lophira, which has switched between subfamilies (here tribes) in past classifications, emerges as sister to all other Ochneae. Thus, endosperm-free seeds and ovules with partly to completely united integuments (resulting in an apparently single integument) are characters that unite all members of that tribe. The relationships within its largest clade, Ochnineae (former Ochneae), are poorly resolved, but former Ochninae (Brackenridgea, Ochna) are polyphyletic. Within Sauvagesieae, the genus Sauvagesia in its broad circumscription is polyphyletic as Sauvagesia serrata is sister to a clade of Adenarake, Sauvagesia spp., and three other genera. Within Quiinoideae, in contrast to former phylogenetic hypotheses, Lacunaria and Touroulia form a clade that is sister to Quiina. Bayesian ancestral state reconstructions showed that zygomorphic flowers with adaptations to buzz-pollination (poricidal anthers), a syncarpous gynoecium (a near-apocarpous gynoecium evolved independently in Quiinoideae and Ochninae), numerous ovules, septicidal capsules, and winged seeds with endosperm are the ancestral condition in Ochnoideae. Although in some lineages poricidal anthers were lost secondarily, the evolution of poricidal superstructures secured the maintenance of buzz-pollination in some of these genera, indicating a strong selective pressure on keeping that specialized pollination system.

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G-quadruplexes are secondary structures present in DNA and RNA molecules, which are formed by stacking of G-quartets (i.e., interaction of four guanines (G-tracts) bounded by Hoogsteen hydrogen bonding). Human PAX9 intron 1 has a putative G-quadruplex-forming region located near exon 1, which is present in all known sequenced placental mammals. Using circular dichroism (CD) analysis and CD melting, we showed that these sequences are able to form highly stable quadruplex structures. Due to the proximity of the quadruplex structure to exon-intron boundary, we used a validated double-reporter splicing assay and qPCR to analyze its role on splicing efficiency. The human quadruplex was shown to have a key role on splicing efficiency of PAX9 intron 1, as a mutation that abolished quadruplex formation decreased dramatically the splicing efficiency of human PAX9 intron 1. The less stable, rat quadruplex had a less efficient splicing when compared to human sequences. Additionally, the treatment with 360A, a strong ligand that stabilizes quadruplex structures, further increased splicing efficiency of human PAX9 intron 1. Altogether, these results provide evidences that G-quadruplex structures are involved in splicing efficiency of PAX9 intron 1.