Una base dati per il knowledge discovery in genetica medica

L'innovazione delle tecnologie di sequenziamento negli ultimi anni ha reso possibile la catalogazione delle varianti genetiche nei campioni umani, portando nuove scoperte e comprensioni nella ricerca medica, farmaceutica, dell'evoluzione e negli studi sulla popolazione. La quantità di sequenze prodotta è molto cospicua, e per giungere all'identificazione delle varianti sono necessari diversi stadi di elaborazione delle informazioni genetiche in cui, ad ogni passo, vengono generate ulteriori informazioni. Insieme a questa immensa accumulazione di dati, è nata la necessità da parte della comunità scientifica di organizzare i dati in repository, dapprima solo per condividere i risultati delle ricerche, poi per permettere studi statistici direttamente sui dati genetici. Gli studi su larga scala coinvolgono quantità di dati nell'ordine dei petabyte, il cui mantenimento continua a rappresentare una sfida per le infrastrutture. Per la varietà e la quantità di dati prodotti, i database giocano un ruolo di primaria importanza in questa sfida. Modelli e organizzazione dei dati in questo campo possono fare la differenza non soltanto per la scalabilità, ma anche e soprattutto per la predisposizione al data mining. Infatti, la memorizzazione di questi dati in file con formati quasi-standard, la dimensione di questi file, e i requisiti computazionali richiesti, rendono difficile la scrittura di software di analisi efficienti e scoraggiano studi su larga scala e su dati eterogenei. Prima di progettare il database si è perciò studiata l’evoluzione, negli ultimi vent’anni, dei formati quasi-standard per i flat file biologici, contenenti metadati eterogenei e sequenze nucleotidiche vere e proprie, con record privi di relazioni strutturali. Recentemente questa evoluzione è culminata nell’utilizzo dello standard XML, ma i flat file delimitati continuano a essere gli standard più supportati da tools e piattaforme online. È seguita poi un’analisi dell’organizzazione interna dei dati per i database biologici pubblici. Queste basi di dati contengono geni, varianti genetiche, strutture proteiche, ontologie fenotipiche, relazioni tra malattie e geni, relazioni tra farmaci e geni. Tra i database pubblici studiati rientrano OMIM, Entrez, KEGG, UniProt, GO. L'obiettivo principale nello studio e nella modellazione del database genetico è stato quello di strutturare i dati in modo da integrare insieme i dati eterogenei prodotti e rendere computazionalmente possibili i processi di data mining. La scelta di tecnologia Hadoop/MapReduce risulta in questo caso particolarmente incisiva, per la scalabilità garantita e per l’efficienza nelle analisi statistiche più complesse e parallele, come quelle riguardanti le varianti alleliche multi-locus.

Index Tracking Using Data-Mining Techniques and Mixed-Binary Linear Programming

Index tracking has become one of the most common strategies in asset management. The index-tracking problem consists of constructing a portfolio that replicates the future performance of an index by including only a subset of the index constituents in the portfolio. Finding the most representative subset is challenging when the number of stocks in the index is large. We introduce a new three-stage approach that at first identifies promising subsets by employing data-mining techniques, then determines the stock weights in the subsets using mixed-binary linear programming, and finally evaluates the subsets based on cross validation. The best subset is returned as the tracking portfolio. Our approach outperforms state-of-the-art methods in terms of out-of-sample performance and running times.

New algorithms for automated phylogenetic reconstruction using artificial intelligence and data mining techniques

Academic and industrial research in the late 90s have brought about an exponential explosion of DNA sequence data. Automated expert systems are being created to help biologists to extract patterns, trends and links from this ever-deepening ocean of information. Two such systems aimed on retrieving and subsequently utilizing phylogenetically relevant information have been developed in this dissertation, the major objective of which was to automate the often difficult and confusing phylogenetic reconstruction process. ^ Popular phylogenetic reconstruction methods, such as distance-based methods, attempt to find an optimal tree topology (that reflects the relationships among related sequences and their evolutionary history) by searching through the topology space. Various compromises between the fast (but incomplete) and exhaustive (but computationally prohibitive) search heuristics have been suggested. An intelligent compromise algorithm that relies on a flexible “beam” search principle from the Artificial Intelligence domain and uses the pre-computed local topology reliability information to adjust the beam search space continuously is described in the second chapter of this dissertation. ^ However, sometimes even a (virtually) complete distance-based method is inferior to the significantly more elaborate (and computationally expensive) maximum likelihood (ML) method. In fact, depending on the nature of the sequence data in question either method might prove to be superior. Therefore, it is difficult (even for an expert) to tell a priori which phylogenetic reconstruction method—distance-based, ML or maybe maximum parsimony (MP)—should be chosen for any particular data set. ^ A number of factors, often hidden, influence the performance of a method. For example, it is generally understood that for a phylogenetically “difficult” data set more sophisticated methods (e.g., ML) tend to be more effective and thus should be chosen. However, it is the interplay of many factors that one needs to consider in order to avoid choosing an inferior method (potentially a costly mistake, both in terms of computational expenses and in terms of reconstruction accuracy.) ^ Chapter III of this dissertation details a phylogenetic reconstruction expert system that selects a superior proper method automatically. It uses a classifier (a Decision Tree-inducing algorithm) to map a new data set to the proper phylogenetic reconstruction method. ^

Adapting autonomously classification data mining algorithms for ubiquitous devices

Abstract Due to recent scientific and technological advances in information sys¬tems, it is now possible to perform almost every application on a mobile device. The need to make sense of such devices more intelligent opens an opportunity to design data mining algorithm that are able to autonomous execute in local devices to provide the device with knowledge. The problem behind autonomous mining deals with the proper configuration of the algorithm to produce the most appropriate results. Contextual information together with resource information of the device have a strong impact on both the feasibility of a particu¬lar execution and on the production of the proper patterns. On the other hand, performance of the algorithm expressed in terms of efficacy and efficiency highly depends on the features of the dataset to be analyzed together with values of the parameters of a particular implementation of an algorithm. However, few existing approaches deal with autonomous configuration of data mining algorithms and in any case they do not deal with contextual or resources information. Both issues are of particular significance, in particular for social net¬works application. In fact, the widespread use of social networks and consequently the amount of information shared have made the need of modeling context in social application a priority. Also the resource consumption has a crucial role in such platforms as the users are using social networks mainly on their mobile devices. This PhD thesis addresses the aforementioned open issues, focusing on i) Analyzing the behavior of algorithms, ii) mapping contextual and resources information to find the most appropriate configuration iii) applying the model for the case of a social recommender. Four main contributions are presented: - The EE-Model: is able to predict the behavior of a data mining algorithm in terms of resource consumed and accuracy of the mining model it will obtain. - The SC-Mapper: maps a situation defined by the context and resource state to a data mining configuration. - SOMAR: is a social activity (event and informal ongoings) recommender for mobile devices. - D-SOMAR: is an evolution of SOMAR which incorporates the configurator in order to provide updated recommendations. Finally, the experimental validation of the proposed contributions using synthetic and real datasets allows us to achieve the objectives and answer the research questions proposed for this dissertation.

Data mining applied to the cognitive rehabilitation of patients with acquired brain injury

Acquired brain injury (ABI) is one of the leading causes of death and disability in the world and is associated with high health care costs as a result of the acute treatment and long term rehabilitation involved. Different algorithms and methods have been proposed to predict the effectiveness of rehabilitation programs. In general, research has focused on predicting the overall improvement of patients with ABI. The purpose of this study is the novel application of data mining (DM) techniques to predict the outcomes of cognitive rehabilitation in patients with ABI. We generate three predictive models that allow us to obtain new knowledge to evaluate and improve the effectiveness of the cognitive rehabilitation process. Decision tree (DT), multilayer perceptron (MLP) and general regression neural network (GRNN) have been used to construct the prediction models. 10-fold cross validation was carried out in order to test the algorithms, using the Institut Guttmann Neurorehabilitation Hospital (IG) patients database. Performance of the models was tested through specificity, sensitivity and accuracy analysis and confusion matrix analysis. The experimental results obtained by DT are clearly superior with a prediction average accuracy of 90.38%, while MLP and GRRN obtained a 78.7% and 75.96%, respectively. This study allows to increase the knowledge about the contributing factors of an ABI patient recovery and to estimate treatment efficacy in individual patients.

Dental Implants Success Prediction: Tomography Based and Data Mining Based Approach.

There are a number of factors that contribute to the success of dental implant operations. Among others, is the choice of location in which the prosthetic tooth is to be implanted. This project offers a new approach to analyse jaw tissue for the purpose of selecting suitable locations for teeth implant operations. The application developed takes as input jaw computed tomography stack of slices and trims data outside the jaw area, which is the point of interest. It then reconstructs a three dimensional model of the jaw highlighting points of interest on the reconstructed model. On another hand, data mining techniques have been utilised in order to construct a prediction model based on an information dataset of previous dental implant operations with observed stability values. The goal is to find patterns within the dataset that would help predicting the success likelihood of an implant.

Data Mining with Enhanced Neural Networks-CMMSE

Abstract This paper presents a new method to extract knowledge from existing data sets, that is, to extract symbolic rules using the weights of an Artificial Neural Network. The method has been applied to a neural network with special architecture named Enhanced Neural Network (ENN). This architecture improves the results that have been obtained with multilayer perceptron (MLP). The relationship among the knowledge stored in the weights, the performance of the network and the new implemented algorithm to acquire rules from the weights is explained. The method itself gives a model to follow in the knowledge acquisition with ENN.

Una aproximación a la predicción del valor de acciones en la bolsa de valores aplicando técnicas de Data Mining

La predicción del valor de las acciones en la bolsa de valores ha sido un tema importante en el campo de inversiones, que por varios años ha atraído tanto a académicos como a inversionistas. Esto supone que la información disponible en el pasado de la compañía que cotiza en bolsa tiene alguna implicación en el futuro del valor de la misma. Este trabajo está enfocado en ayudar a un persona u organismo que decida invertir en la bolsa de valores a través de gestión de compra o venta de acciones de una compañía a tomar decisiones respecto al tiempo de comprar o vender basado en el conocimiento obtenido de los valores históricos de las acciones de una compañía en la bolsa de valores. Esta decisión será inferida a partir de un modelo de regresión múltiple que es una de las técnicas de datamining. Para llevar conseguir esto se emplea una metodología conocida como CRISP-DM aplicada a los datos históricos de la compañía con mayor valor actual del NASDAQ.---ABSTRACT---The prediction of the value of shares in the stock market has been a major issue in the field of investments, which for several years has attracted both academics and investors. This means that the information available in the company last traded have any involvement in the future of the value of it. This work is focused on helping an investor decides to invest in the stock market through management buy or sell shares of a company to make decisions with respect to time to buy or sell based on the knowledge gained from the historic values of the shares of a company in the stock market. This decision will be inferred from a multiple regression model which is one of the techniques of data mining. To get this out a methodology known as CRISP-DM applied to historical data of the company with the highest current value of NASDAQ is used.

Nuevos Esquemas de Visualizaciones para Mejorar la Comprensibilidad de Modelos de Data Mining

La gran cantidad de datos que se registran diariamente en los sistemas de base de datos de las organizaciones ha generado la necesidad de analizarla. Sin embargo, se enfrentan a la complejidad de procesar enormes volúmenes de datos a través de métodos tradicionales de análisis. Además, dentro de un contexto globalizado y competitivo las organizaciones se mantienen en la búsqueda constante de mejorar sus procesos, para lo cual requieren herramientas que les permitan tomar mejores decisiones. Esto implica estar mejor informado y conocer su historia digital para describir sus procesos y poder anticipar (predecir) eventos no previstos. Estos nuevos requerimientos de análisis de datos ha motivado el desarrollo creciente de proyectos de minería de datos. El proceso de minería de datos busca obtener desde un conjunto masivo de datos, modelos que permitan describir los datos o predecir nuevas instancias en el conjunto. Implica etapas de: preparación de los datos, procesamiento parcial o totalmente automatizado para identificar modelos en los datos, para luego obtener como salida patrones, relaciones o reglas. Esta salida debe significar un nuevo conocimiento para la organización, útil y comprensible para los usuarios finales, y que pueda ser integrado a los procesos para apoyar la toma de decisiones. Sin embargo, la mayor dificultad es justamente lograr que el analista de datos, que interviene en todo este proceso, pueda identificar modelos lo cual es una tarea compleja y muchas veces requiere de la experiencia, no sólo del analista de datos, sino que también del experto en el dominio del problema. Una forma de apoyar el análisis de datos, modelos y patrones es a través de su representación visual, utilizando las capacidades de percepción visual del ser humano, la cual puede detectar patrones con mayor facilidad. Bajo este enfoque, la visualización ha sido utilizada en minería datos, mayormente en el análisis descriptivo de los datos (entrada) y en la presentación de los patrones (salida), dejando limitado este paradigma para el análisis de modelos. El presente documento describe el desarrollo de la Tesis Doctoral denominada “Nuevos Esquemas de Visualizaciones para Mejorar la Comprensibilidad de Modelos de Data Mining”. Esta investigación busca aportar con un enfoque de visualización para apoyar la comprensión de modelos minería de datos, para esto propone la metáfora de modelos visualmente aumentados. ABSTRACT The large amount of data to be recorded daily in the systems database of organizations has generated the need to analyze it. However, faced with the complexity of processing huge volumes of data over traditional methods of analysis. Moreover, in a globalized and competitive environment organizations are kept constantly looking to improve their processes, which require tools that allow them to make better decisions. This involves being bettered informed and knows your digital story to describe its processes and to anticipate (predict) unanticipated events. These new requirements of data analysis, has led to the increasing development of data-mining projects. The data-mining process seeks to obtain from a massive data set, models to describe the data or predict new instances in the set. It involves steps of data preparation, partially or fully automated processing to identify patterns in the data, and then get output patterns, relationships or rules. This output must mean new knowledge for the organization, useful and understandable for end users, and can be integrated into the process to support decision-making. However, the biggest challenge is just getting the data analyst involved in this process, which can identify models is complex and often requires experience not only of the data analyst, but also the expert in the problem domain. One way to support the analysis of the data, models and patterns, is through its visual representation, i.e., using the capabilities of human visual perception, which can detect patterns easily in any context. Under this approach, the visualization has been used in data mining, mostly in exploratory data analysis (input) and the presentation of the patterns (output), leaving limited this paradigm for analyzing models. This document describes the development of the doctoral thesis entitled "New Visualizations Schemes to Improve Understandability of Data-Mining Models". This research aims to provide a visualization approach to support understanding of data mining models for this proposed metaphor visually enhanced models.

From trial data to practical knowledge: qualitative study of how general practitioners have accessed and used evidence about statin drugs in their management of hypercholesterolaemia

Objectives To explore how general practitioners have accessed and evaluated evidence from trials on the use of statin lipid lowering drugs and incorporated this evidence into their practice. To draw out the practical implications of this study for strategies to integrate clinical evidence into general medical practice.

Uso de Data Mining e do ECR para incremento da competitividade de pequenas e médias empresas: um estudo multicaso sobre varejo e indústria alimentícia

O setor supermercadista sofreu grandes alterações nos últimos anos, principalmente com o avanço das tecnologias, a competição, a concentração e algumas insuficiências em seus processos. Estes e outros fatores favoreceram ao surgimento do movimento de ECR (Resposta de Consumidor Eficiente) que procura criar um relacionamento mais forte entre indústria e varejo através de novas visões para suas estratégias operacionais. A evolução das tecnologias de informação permitiram ao setor varejista gerar uma maior volume de dados a partir, principalmente, de seus check-outs. Entretanto, estes dados nem sempre são armazenados de forma correta ou utilizados de forma a se aproveitar a plenitude das informações neles contidas. O processo de transformar os dados em informação e conhecimento vem evoluindo constantemente. Uma das atuais metodologias de trabalhar dados é o Data Mining ou Mineração de Dados, que pode ser descrito como sendo uma variedade de ferramentas e estratégias que processam dados aumentando a utilidade destes em bancos de dados. Este trabalho analisa através de um estudo multicaso exploratório na região de Ribeirão Preto, no interior de São Paulo, a avaliação da capacidade do uso da tecnologia Data Mining para o fortalecimento do movimento ECR, principalmente em pequenos e médios varejistas e indústrias alimentícias, no sentido de oferecer a estes um diferencial de negociação para formação de alianças estratégias.

A data driven study of relationships between relief and farmland abandonment in a Mediterranean region

The environmental, cultural and socio-economic causes and consequences of farmland abandonment are issues of increasing concern for researchers and policy makers. In previous studies, we proposed a new methodology for selecting the driving factors in farmland abandonment processes. Using Data Mining and GIS, it is possible to select those variables which are more significantly related to abandonment. The aim of this study is to investigate the application of the above mentioned methodology for finding relationships between relief and farmland abandonment in a Mediterranean region (SE Spain).We have taken into account up to 28 different variables in a single analysis, some of them commonly considered in land use change studies (slope, altitude, TWI, etc), but also other novel variables have been evaluated (sky view factor, terrain view factor, etc). The variable selection process provides results in line with the previous knowledge of the study area, describing some processes that are region specific (e.g. abandonment versus intensification of the agricultural activities). The European INSPIRE Directive (2007/2/EC) establishes that the digital elevation models for land surfaces should be available in all member countries, this means that the research described in this work can be extrapolated to any European country to determine whether these variables (slope, altitude, etc) are important in the process of abandonment.