Machine Learning and Integrative Analysis of Biomedical Big Data.

Recent developments in high-throughput technologies have accelerated the accumulation of massive amounts of omics data from multiple sources: genome, epigenome, transcriptome, proteome, metabolome, etc. Traditionally, data from each source (e.g., genome) is analyzed in isolation using statistical and machine learning (ML) methods. Integrative analysis of multi-omics and clinical data is key to new biomedical discoveries and advancements in precision medicine. However, data integration poses new computational challenges as well as exacerbates the ones associated with single-omics studies. Specialized computational approaches are required to effectively and efficiently perform integrative analysis of biomedical data acquired from diverse modalities. In this review, we discuss state-of-the-art ML-based approaches for tackling five specific computational challenges associated with integrative analysis: curse of dimensionality, data heterogeneity, missing data, class imbalance and scalability issues

Multiscale Discriminant Saliency for Visual Attention

The bottom-up saliency, an early stage of humans' visual attention, can be considered as a binary classification problem between center and surround classes. Discriminant power of features for the classification is measured as mutual information between features and two classes distribution. The estimated discrepancy of two feature classes very much depends on considered scale levels; then, multi-scale structure and discriminant power are integrated by employing discrete wavelet features and Hidden markov tree (HMT). With wavelet coefficients and Hidden Markov Tree parameters, quad-tree like label structures are constructed and utilized in maximum a posterior probability (MAP) of hidden class variables at corresponding dyadic sub-squares. Then, saliency value for each dyadic square at each scale level is computed with discriminant power principle and the MAP. Finally, across multiple scales is integrated the final saliency map by an information maximization rule. Both standard quantitative tools such as NSS, LCC, AUC and qualitative assessments are used for evaluating the proposed multiscale discriminant saliency method (MDIS) against the well-know information-based saliency method AIM on its Bruce Database wity eye-tracking data. Simulation results are presented and analyzed to verify the validity of MDIS as well as point out its disadvantages for further research direction.Comment: 16 pages, ICCSA 2013 - BIOCA sessio

Distributed Holistic Clustering on Linked Data

Link discovery is an active field of research to support data integration in the Web of Data. Due to the huge size and number of available data sources, efficient and effective link discovery is a very challenging task. Common pairwise link discovery approaches do not scale to many sources with very large entity sets. We here propose a distributed holistic approach to link many data sources based on a clustering of entities that represent the same real-world object. Our clustering approach provides a compact and fused representation of entities, and can identify errors in existing links as well as many new links. We support a distributed execution of the clustering approach to achieve faster execution times and scalability for large real-world data sets. We provide a novel gold standard for multi-source clustering, and evaluate our methods with respect to effectiveness and efficiency for large data sets from the geographic and music domains

Pairwise gene GO-based measures for biclustering of high-dimensional expression data

Background: Biclustering algorithms search for groups of genes that share the same behavior under a subset of samples in gene expression data. Nowadays, the biological knowledge available in public repositories can be used to drive these algorithms to find biclusters composed of groups of genes functionally coherent. On the other hand, a distance among genes can be defined according to their information stored in Gene Ontology (GO). Gene pairwise GO semantic similarity measures report a value for each pair of genes which establishes their functional similarity. A scatter search-based algorithm that optimizes a merit function that integrates GO information is studied in this paper. This merit function uses a term that addresses the information through a GO measure. Results: The effect of two possible different gene pairwise GO measures on the performance of the algorithm is analyzed. Firstly, three well known yeast datasets with approximately one thousand of genes are studied. Secondly, a group of human datasets related to clinical data of cancer is also explored by the algorithm. Most of these data are high-dimensional datasets composed of a huge number of genes. The resultant biclusters reveal groups of genes linked by a same functionality when the search procedure is driven by one of the proposed GO measures. Furthermore, a qualitative biological study of a group of biclusters show their relevance from a cancer disease perspective. Conclusions: It can be concluded that the integration of biological information improves the performance of the biclustering process. The two different GO measures studied show an improvement in the results obtained for the yeast dataset. However, if datasets are composed of a huge number of genes, only one of them really improves the algorithm performance. This second case constitutes a clear option to explore interesting datasets from a clinical point of view.Ministerio de Economía y Competitividad TIN2014-55894-C2-

Visual Integration of Data and Model Space in Ensemble Learning

Ensembles of classifier models typically deliver superior performance and can outperform single classifier models given a dataset and classification task at hand. However, the gain in performance comes together with the lack in comprehensibility, posing a challenge to understand how each model affects the classification outputs and where the errors come from. We propose a tight visual integration of the data and the model space for exploring and combining classifier models. We introduce a workflow that builds upon the visual integration and enables the effective exploration of classification outputs and models. We then present a use case in which we start with an ensemble automatically selected by a standard ensemble selection algorithm, and show how we can manipulate models and alternative combinations.Comment: 8 pages, 7 picture

Multi-scale Discriminant Saliency with Wavelet-based Hidden Markov Tree Modelling

The bottom-up saliency, an early stage of humans' visual attention, can be considered as a binary classification problem between centre and surround classes. Discriminant power of features for the classification is measured as mutual information between distributions of image features and corresponding classes . As the estimated discrepancy very much depends on considered scale level, multi-scale structure and discriminant power are integrated by employing discrete wavelet features and Hidden Markov Tree (HMT). With wavelet coefficients and Hidden Markov Tree parameters, quad-tree like label structures are constructed and utilized in maximum a posterior probability (MAP) of hidden class variables at corresponding dyadic sub-squares. Then, a saliency value for each square block at each scale level is computed with discriminant power principle. Finally, across multiple scales is integrated the final saliency map by an information maximization rule. Both standard quantitative tools such as NSS, LCC, AUC and qualitative assessments are used for evaluating the proposed multi-scale discriminant saliency (MDIS) method against the well-know information based approach AIM on its released image collection with eye-tracking data. Simulation results are presented and analysed to verify the validity of MDIS as well as point out its limitation for further research direction.Comment: arXiv admin note: substantial text overlap with arXiv:1301.396