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BMC Bioinformatics

Xiangdong Zhou, Keith C C Chan
BACKGROUND: Quantitative traits or continuous outcomes related to complex diseases can provide more information and therefore more accurate analysis for identifying gene-gene and gene- environment interactions associated with complex diseases. Multifactor Dimensionality Reduction (MDR) is originally proposed to identify gene-gene and gene- environment interactions associated with binary status of complex diseases. Some efforts have been made to extend it to quantitative traits (QTs) and ordinal traits...
September 18, 2018: BMC Bioinformatics
Weizhuang Zhou, Russ B Altman
BACKGROUND: Analyzing the human transcriptome is crucial in advancing precision medicine, and the plethora of over half a million human microarray samples in the Gene Expression Omnibus (GEO) has enabled us to better characterize biological processes at the molecular level. However, transcriptomic analysis is challenging because the data is inherently noisy and high-dimensional. Gene set analysis is currently widely used to alleviate the issue of high dimensionality, but the user-defined choice of gene sets can introduce biasness in results...
September 17, 2018: BMC Bioinformatics
Wei Zheng, Hongfei Lin, Xiaoxia Liu, Bo Xu
BACKGROUND: The effective combination of texts and knowledge may improve performances of natural language processing tasks. For the recognition of chemical-induced disease (CID) relations which may span sentence boundaries in an article, although existing CID systems explored the utilization for knowledge bases, the effects of different knowledge on the identification of a special CID haven't been distinguished by these systems. Moreover, systems based on neural network only constructed sentence or mention level models...
September 17, 2018: BMC Bioinformatics
Rohit Kongari, Manoj Rajaure, Jesse Cahill, Eric Rasche, Eleni Mijalis, Joel Berry, Ry Young
BACKGROUND: Spanins are phage lysis proteins required to disrupt the outer membrane. Phages employ either two-component spanins or unimolecular spanins in this final step of Gram-negative host lysis. Two-component spanins like Rz-Rz1 from phage lambda consist of an integral inner membrane protein: i-spanin, and an outer membrane lipoprotein: o-spanin, that form a complex spanning the periplasm. Two-component spanins exist in three different genetic architectures; embedded, overlapped and separated...
September 15, 2018: BMC Bioinformatics
Matthew M Parks, Benjamin J Raphael, Charles E Lawrence
BACKGROUND: Procedures for controlling the false discovery rate (FDR) are widely applied as a solution to the multiple comparisons problem of high-dimensional statistics. Current FDR-controlling procedures require accurately calculated p-values and rely on extrapolation into the unknown and unobserved tails of the null distribution. Both of these intermediate steps are challenging and can compromise the reliability of the results. RESULTS: We present a general method for controlling the FDR that capitalizes on the large amount of control data often found in big data studies to avoid these frequently problematic intermediate steps...
September 14, 2018: BMC Bioinformatics
Takeyuki Tamura
BACKGROUND: Constraint-based metabolic flux analysis of knockout strategies is an efficient method to simulate the production of useful metabolites in microbes. Owing to the recent development of technologies for artificial DNA synthesis, it may become important in the near future to mathematically design minimum metabolic networks to simulate metabolite production. RESULTS: We have developed a computational method where parsimonious metabolic flux distribution is computed for designated constraints on growth and production rates which are represented by grids...
September 14, 2018: BMC Bioinformatics
Luc Villandré, Aurélie Labbe, Bluma Brenner, Michel Roger, David A Stephens
BACKGROUND: Conventional phylogenetic clustering approaches rely on arbitrary cutpoints applied a posteriori to phylogenetic estimates. Although in practice, Bayesian and bootstrap-based clustering tend to lead to similar estimates, they often produce conflicting measures of confidence in clusters. The current study proposes a new Bayesian phylogenetic clustering algorithm, which we refer to as DM-PhyClus (Dirichlet-Multinomial Phylogenetic Clustering), that identifies sets of sequences resulting from quick transmission chains, thus yielding easily-interpretable clusters, without using any ad hoc distance or confidence requirement...
September 14, 2018: BMC Bioinformatics
Simon Klau, Vindi Jurinovic, Roman Hornung, Tobias Herold, Anne-Laure Boulesteix
BACKGROUND: The inclusion of high-dimensional omics data in prediction models has become a well-studied topic in the last decades. Although most of these methods do not account for possibly different types of variables in the set of covariates available in the same dataset, there are many such scenarios where the variables can be structured in blocks of different types, e.g., clinical, transcriptomic, and methylation data. To date, there exist a few computationally intensive approaches that make use of block structures of this kind...
September 12, 2018: BMC Bioinformatics
Sandhya P Tiwari, Florence Tama, Osamu Miyashita
BACKGROUND: Advancements in biophysical experimental techniques have pushed the limits in terms of the types of phenomena that can be characterized, the amount of data that can be produced and the resolution at which we can visualize them. Single particle techniques such as Electron Microscopy (EM) and X-ray free electron laser (XFEL) scattering require a large number of 2D images collected to resolve three-dimensional (3D) structures. In this study, we propose a quick strategy to retrieve potential 3D shapes, as low-resolution models, from a few 2D experimental images by searching a library of 2D projection images generated from existing 3D structures...
September 12, 2018: BMC Bioinformatics
Robert Müller, Markus E Nebel
BACKGROUND: Massive genomic data sets from high-throughput sequencing allow for new insights into complex biological systems such as microbial communities. Analyses of their diversity and structure are typically preceded by clustering millions of 16S rRNA gene sequences into OTUs. Swarm introduced a new clustering strategy which addresses important conceptual and performance issues of the popular de novo clustering approach. However, some parts of the new strategy, e.g. the fastidious option for increased clustering quality, come with their own restrictions...
September 12, 2018: BMC Bioinformatics
Danilo Dessì, Jacopo Cirrone, Diego Reforgiato Recupero, Dennis Shasha
BACKGROUND: Networks whose nodes have labels can seem complex. Fortunately, many have substructures that occur often ("motifs"). A societal example of a motif might be a household. Replacing such motifs by named supernodes reduces the complexity of the network and can bring out insightful features. Doing so repeatedly may give hints about higher level structures of the network. We call this recursive process Recursive Supernode Extraction. RESULTS: This paper describes algorithms and a tool to discover disjoint (i...
September 10, 2018: BMC Bioinformatics
Itziar Irigoien, Concepción Arenas
BACKGROUND: An important issue in microarray data is to select, from thousands of genes, a small number of informative differentially expressed (DE) genes which may be key elements for a disease. If each gene is analyzed individually, there is a big number of hypotheses to test and a multiple comparison correction method must be used. Consequently, the resulting cut-off value may be too small. Moreover, an important issue is the selection's replicability of the DE genes. We present a new method, called ORdensity, to obtain a reproducible selection of DE genes...
September 10, 2018: BMC Bioinformatics
Mario A Flores, Ivan Ovcharenko
BACKGROUND: Transcription factor binding site (TFBS) loss, gain, and reshuffling within the sequence of a regulatory element could alter the function of that regulatory element. Some of the changes will be detrimental to the fitness of the species and will result in gradual removal from a population, while other changes would be either beneficial or just a part of genetic drift and end up being fixed in a population. This "reprogramming" of regulatory elements results in modification of the gene regulatory landscape during evolution...
September 10, 2018: BMC Bioinformatics
Mazen Alobaidi, Khalid Mahmood Malik, Susan Sabra
BACKGROUND: Fulfilling the vision of Semantic Web requires an accurate data model for organizing knowledge and sharing common understanding of the domain. Fitting this description, ontologies are the cornerstones of Semantic Web and can be used to solve many problems of clinical information and biomedical engineering, such as word sense disambiguation, semantic similarity, question answering, ontology alignment, etc. Manual construction of ontology is labor intensive and requires domain experts and ontology engineers...
September 10, 2018: BMC Bioinformatics
Hao Sun, Yiting Shen, Guangwen Luo, Yuepiao Cai, Zheng Xiang
BACKGROUND: Target identification is necessary for the comprehensive inference of the mechanism of action of a compound. The application of computational methods to predict the targets of bioactive compounds saves cost and time in drug research and development. Therefore, we designed an integrated strategy consisting of ligand-protein docking, network analysis, enrichment analysis, and an experimental surface plasmon resonance (SPR) method to identify and validate new targets, and then used enriched pathways to elucidate the underlying pharmacological mechanisms...
September 6, 2018: BMC Bioinformatics
Nicolas Servant, Nelle Varoquaux, Edith Heard, Emmanuel Barillot, Jean-Philippe Vert
BACKGROUND: Normalization is essential to ensure accurate analysis and proper interpretation of sequencing data, and chromosome conformation capture data such as Hi-C have particular challenges. Although several methods have been proposed, the most widely used type of normalization of Hi-C data usually casts estimation of unwanted effects as a matrix balancing problem, relying on the assumption that all genomic regions interact equally with each other. RESULTS: In order to explore the effect of copy-number variations on Hi-C data normalization, we first propose a simulation model that predict the effects of large copy-number changes on a diploid Hi-C contact map...
September 6, 2018: BMC Bioinformatics
Caroline Bazzoli, Sophie Lambert-Lacroix
BACKGROUND: To address high-dimensional genomic data, most of the proposed prediction methods make use of genomic data alone without considering clinical data, which are often available and known to have predictive value. Recent studies suggest that combining clinical and genomic information may improve predictions. We consider here methods for classification purposes that simultaneously use both types of variables but apply dimensionality reduction only to the high-dimensional genomic ones...
September 6, 2018: BMC Bioinformatics
Mahdi Heydari, Giles Miclotte, Yves Van de Peer, Jan Fostier
BACKGROUND: Aligning short reads to a reference genome is an important task in many genome analysis pipelines. This task is computationally more complex when the reference genome is provided in the form of a de Bruijn graph instead of a linear sequence string. RESULTS: We present a branch and bound alignment algorithm that uses the seed-and-extend paradigm to accurately align short Illumina reads to a graph. Given a seed, the algorithm greedily explores all branches of the tree until the optimal alignment path is found...
September 4, 2018: BMC Bioinformatics
Kevin Vanneste, Linda Garlant, Sylvia Broeders, Steven Van Gucht, Nancy H Roosens
BACKGROUND: Viral infection by dengue virus is a major public health problem in tropical countries. Early diagnosis and detection are increasingly based on quantitative reverse transcriptase real-time polymerase chain reaction (RT-qPCR) directed against genomic regions conserved between different isolates. Genetic variation can however result in mismatches of primers and probes with their targeted nucleic acid regions. Whole genome sequencing allows to characterize and track such changes, which in turn enables to evaluate, optimize, and (re-)design novel and existing RT-qPCR methods...
September 4, 2018: BMC Bioinformatics
Hani Z Girgis, Alfredo Velasco, Zachary E Reyes
BACKGROUND: Histone modifications play important roles in gene regulation, heredity, imprinting, and many human diseases. The histone code is complex and consists of more than 100 marks. Therefore, biologists need computational tools to characterize general signatures representing the distributions of tens of chromatin marks around thousands of regions. RESULTS: To this end, we developed a software tool, HebbPlot, which utilizes a Hebbian neural network in learning a general chromatin signature from regions with a common function...
September 3, 2018: BMC Bioinformatics
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