Bioinformatics Databases: State of the Art and Research Perspectives

Bioinformatics or computational biology, i.e. the application of mathematical and computer science methods to solving problems in molecular biology that require large scale data, computation, and analysis, is a research area currently receiving a considerable attention. Databases play an essential role in molecular biology and consequently in bioinformatics. molecular biology data are often relatively cheap to produce, leading to a proliferation of databases: the number of bioinformatics databases accessible worldwide probably lies between 500 and 1.000. Not only molecular biology data, but also molecular biology literature and literature references are stored in databases. Bioinformatics databases are often very large (e.g. the sequence database GenBank contains more than 4 × 10 6 nucleotide sequences) and in general grows rapidly (e.g. about 8000 abstracts are added every month to the literature database PubMed). Bioinformatics databases are heterogeneous in their data, in their data modeling paradigms, in their management systems, and in the data analysis tools they supports. Furthermore, bioinformatics databases are often implemented, queried, updated, and managed using methods rarely applied for other databases. This presentation aims at introducing in current bioinformatics databases, stressing their aspects departing from conventional databases. A more detailed survey can be found in [1] upon which thi

A Molecular Biology Database Digest

Computational Biology or Bioinformatics has been defined as the application of mathematical and Computer Science methods to solving problems in Molecular Biology that require large scale data, computation, and analysis [18]. As expected, Molecular Biology databases play an essential role in Computational Biology research and development. This paper introduces into current Molecular Biology databases, stressing data modeling, data acquisition, data retrieval, and the integration of Molecular Biology data from different sources. This paper is primarily intended for an audience of computer scientists with a limited background in Biology

Coping With New Challengens for Density-Based Clustering

Knowledge Discovery in Databases (KDD) is the non-trivial process of identifying valid, novel, potentially useful, and ultimately understandable patterns in data. The core step of the KDD process is the application of a Data Mining algorithm in order to produce a particular enumeration of patterns and relationships in large databases. Clustering is one of the major data mining tasks and aims at grouping the data objects into meaningful classes (clusters) such that the similarity of objects within clusters is maximized, and the similarity of objects from different clusters is minimized. Beside many others, the density-based clustering notion underlying the algorithm DBSCAN and its hierarchical extension OPTICS has been proposed recently, being one of the most successful approaches to clustering. In this thesis, our aim is to advance the state-of-the-art clustering, especially density-based clustering by identifying novel challenges for density-based clustering and proposing innovative and solid solutions for these challenges. We describe the development of the industrial prototype BOSS (Browsing OPTICS plots for Similarity Search) which is a first step towards developing a comprehensive, scalable and distributed computing solution designed to make the efficiency and analytical capabilities of OPTICS available to a broader audience. For the development of BOSS, several key enhancements of OPTICS are required which are addressed in this thesis. We develop incremental algorithms of OPTICS to efficiently reconstruct the hierarchical clustering structure in frequently updated databases, in particular, when a set of objects is inserted in or deleted from the database. We empirically show that these incremental algorithms yield significant speed-up factors over the original OPTICS algorithm. Furthermore, we propose a novel algorithm for automatic extraction of clusters from hierarchical clustering representations that outperforms comparative methods, and introduce two novel approaches for selecting meaningful representatives, using the density-based concepts of OPTICS and producing better results than the related medoid approach. Another major challenge for density-based clustering is to cope with high dimensional data. Many today's real-world data sets contain a large number of measurements (or features) for a single data object. Usually, global feature reduction techniques cannot be applied to these data sets. Thus, the task of feature selection must be combined with and incooperated into the clustering process. In this thesis, we present original extensions and enhancements of the density-based clustering notion to cope with high dimensional data. In particular, we propose an algorithm called SUBCLU (density based SUBspace CLUstering) that extends DBSCAN to the problem of subspace clustering. SUBCLU efficiently computes all clusters that would have been found if DBSCAN is applied to all possible subspaces of the feature space. An experimental evaluation on real-world data sets illustrates that SUBCLU is more effective than existing subspace clustering algorithms because it is able to find clusters of arbitrary size and shape, and produces determine results. A semi-hierarchical extension of SUBCLU called RIS (Ranking Interesting Subspaces) is proposed that does not compute the subspace clusters directly, but generates a list of subspaces ranked by their clustering characteristics. A hierarchical clustering algorithm can be applied to these interesting subspaces in order to compute a hierarchical (subspace) clustering. A comparative evaluation of RIS and SUBCLU shows that RIS in combination with OPTICS can achieve an information gain over SUBCLU. In addition, we propose the algorithm 4C (Computing Correlation Connected Clusters) that extends the concepts of DBSCAN to compute density-based correlation clusters. 4C benefits from an innovative, well-defined and effective clustering model, outperforming related approaches in terms of clustering quality on real-world data sets.Knowledge Discovery in Databases (KDD) ist der Prozess der (semi-)automatischen Extraktion von Wissen aus Datenbanken, das gültig, bisher unbekannt und potentiell nützlich für eine gegebene Anwendung ist. Der zentrale Schritt des KDD-Prozesses ist das Data Mining. Eine der wichtigsten Aufgaben des Data Mining ist Clustering. Dabei sollen die Objekte einer Datenbank in Gruppen (Cluster) partitioniert werden, so dass Objekte eines Clusters möglichst ähnlich und Objekte verschiedener Cluster möglichst unähnlich zu einander sind. Das dichtebasierte Clustermodell und die darauf aufbauenden Algorithmen DBSCAN und OPTICS sind unter einer Vielzahl anderer Clustering-Ansätze eine der erfolgreichsten Methoden zum Clustering. Im Rahmen dieser Dissertation wollen wir den aktuellen Stand der Technik im Bereich Clustering und speziell im Bereich dichtebasiertes Clustering voranbringen. Dazu erarbeiten wir neue Herausforderungen für das dichtebasierte Clustermodell und schlagen dazu innovative Lösungen vor. Zunächst steht die Entwicklung des industriellen Prototyps BOSS (Browsing OPTICS plots for Similarity Search) im Mittelpunkt dieser Arbeit. BOSS ist ein erster Beitrag zu einer umfassenden, skalierbaren und verteilten Softwarelösung, die eine Nutzung der Effizienzvorteile und die analytischen Möglichkeiten des dichtebasierten, hierarchischen Clustering-Algorithmus OPTICS für ein breites Publikum ermöglichen. Zur Entwicklung von BOSS werden drei entscheidende Erweiterungen von OPTICS benötigt: Wir entwickeln eine inkrementelle Version von OPTICS um nach einem Update der Datenbank (Einfügen/Löschen einer Menge von Objekten) die hierarchische Clustering Struktur effizient zu reorganisieren. Anhand von Experimenten mit synthetischen und realen Daten zeigen wir, dass die vorgeschlagenen, inkrementellen Algorithmen deutliche Beschleunigungsfaktoren gegenüber dem originalen OPTICS-Algorithmus erzielen. Desweiteren schlagen wir einen neuen Algorithmus zur automatischen Clusterextraktion aus hierarchischen Repräsentationen und zwei innovative Methoden zur automatischen Auswahl geeigneter Clusterrepräsentaten vor. Unsere neuen Techniken erzielen bei Tests auf mehreren realen Datenbanken im Vergleich zu den konkurrierenden Verfahren bessere Ergebnisse. Eine weitere Herausforderung für Clustering-Verfahren stellen hochdimensionale Featureräume dar. Reale Datensätze beinhalten dank moderner Verfahren zur Datenerhebung häufig sehr viele Merkmale. Teile dieser Merkmale unterliegen oft Rauschen oder Abhängigkeiten und können meist nicht im Vorfeld ausgesiebt werden, da diese Effekte jeweils in Teilen der Datenbank unterschiedlich ausgeprägt sind. Daher muss die Wahl der Features mit dem Data-Mining-Verfahren verknüpft werden. Im Rahmen dieser Arbeit stellen wir innovative Erweiterungen des dichtebasierten Clustermodells für hochdimensionale Daten vor. Wir entwickeln SUBCLU (dichtebasiertes SUBspace CLUstering), ein auf DBSCAN basierender Subspace Clustering Algorithmus. SUBCLU erzeugt effizient alle Cluster, die gefunden werden, wenn man DBSCAN auf alle möglichen Teilräume des Datensatzes anwendet. Experimente auf realen Daten zeigen, dass SUBCLU effektiver als vergleichbare Algorithmen ist. RIS (Ranking Interesting Subspaces), eine semi-hierarchische Erweiterung von SUBCLU, wird vorgeschlagen, das nicht mehr direkt die Teilraumcluster berechnet, sondern eine Liste von Teilräumen geordnet anhand ihrer Clustering-Qualität erzeugt. Dadurch können hierarchische Partitionierungen auf ausgewählten Teilräumen erzeugt werden. Experimente belegen, dass RIS in Kombination mit OPTICS ein Informationsgewinn gegenüber SUBCLU erreicht. Außerdem stellen wir den neuartigen Korrelationscluster Algorithmus 4C (Computing Correlation Connected Clusters) vor. 4C basiert auf einem innovativen und wohldefinierten Clustermodell und erzielt in unseren Experimenten mit realen Daten bessere Ergebnisse als vergleichbare Clustering-Ansätze

Which isotopes should we choose? Entropy‐based feature ranking enables evaluation of the information content of stable isotopes in archaeofaunal material

Rationale Methods for multi‐isotope analyses are gaining in importance in anthropological, archaeological, and ecological studies. However, when material is limited (i.e., archaeological remains), it is obligatory to decide a priori which isotopic system(s) could be omitted without losing information. Methods We introduce a method that enables feature ranking of isotopic systems on the basis of distance‐based entropy. The feature ranking method is evaluated using Gaussian Mixture Model (GMM) clustering as well as a cluster validation index (“trace index”). Results Combinations of features resulting in high entropy values are less important than those resulting in low entropy values structuring the dataset into more distinct clusters. Therefore, this method allows us to rank isotopic systems. The isotope ranking depends on the analyzed dataset, for example, consisting of terrestrial mammals or fish. The feature ranking results were verified by cluster analysis. Conclusions Entropy‐based feature ranking can be used to a priori select the isotopic systems that should be analyzed. Consequently, we strongly suggest that this method should be applied if only limited material is available

CoMadOut -- A Robust Outlier Detection Algorithm based on CoMAD

Unsupervised learning methods are well established in the area of anomaly detection and achieve state of the art performances on outlier data sets. Outliers play a significant role, since they bear the potential to distort the predictions of a machine learning algorithm on a given data set. Especially among PCA-based methods, outliers have an additional destructive potential regarding the result: they may not only distort the orientation and translation of the principal components, they also make it more complicated to detect outliers. To address this problem, we propose the robust outlier detection algorithm CoMadOut, which satisfies two required properties: (1) being robust towards outliers and (2) detecting them. Our outlier detection method using coMAD-PCA defines dependent on its variant an inlier region with a robust noise margin by measures of in-distribution (ID) and out-of-distribution (OOD). These measures allow distribution based outlier scoring for each principal component, and thus, for an appropriate alignment of the decision boundary between normal and abnormal instances. Experiments comparing CoMadOut with traditional, deep and other comparable robust outlier detection methods showed that the performance of the introduced CoMadOut approach is competitive to well established methods related to average precision (AP), recall and area under the receiver operating characteristic (AUROC) curve. In summary our approach can be seen as a robust alternative for outlier detection tasks

Outlier quantification for multibeam data

This paper discusses the challenges of applying a data analytics pipeline for a large volume of data as can be found in natural and life sciences. To address this challenge, we attempt to elaborate an approach for an improved detection of outliers. We discuss an approach for outlier quantification for bathymetric data. As a use case, we selected ocean science (multibeam) data to calculate the outlierness for each data point. The benefit of outlier quantification is a more accurate estimation of which outliers should be removed or further analyzed. To shed light on the subject, this paper is structured as follows: first, a summary of related works on outlier detection is provided. The usefulness for a structured approach of outlier quantification is then discussed using multibeam data. This is followed by a presentation of the challenges for a suitable solution, and the paper concludes with a summary