Mapping transcription mechanisms from multimodal genomic data.

Abstract:

BACKGROUND:Identification of expression quantitative trait loci (eQTLs) is an emerging area in genomic study. The task requires an integrated analysis of genome-wide single nucleotide polymorphism (SNP) data and gene expression data, raising a new computational challenge due to the tremendous size of data. RESULTS:We develop a method to identify eQTLs. The method represents eQTLs as information flux between genetic variants and transcripts. We use information theory to simultaneously interrogate SNP and gene expression data, resulting in a Transcriptional Information Map (TIM) which captures the network of transcriptional information that links genetic variations, gene expression and regulatory mechanisms. These maps are able to identify both cis- and trans- regulating eQTLs. The application on a dataset of leukemia patients identifies eQTLs in the regions of the GART, PCP4, DSCAM, and RIPK4 genes that regulate ADAMTS1, a known leukemia correlate. CONCLUSIONS:The information theory approach presented in this paper is able to infer the dependence networks between SNPs and transcripts, which in turn can identify cis- and trans-eQTLs. The application of our method to the leukemia study explains how genetic variants and gene expression are linked to leukemia.

journal_name

BMC Bioinformatics

journal_title

BMC bioinformatics

authors

Chang HH,McGeachie M,Alterovitz G,Ramoni MF

doi

10.1186/1471-2105-11-S9-S2

subject

Has Abstract

pub_date

2010-10-28 00:00:00

pages

S2

issn

1471-2105

pii

1471-2105-11-S9-S2

journal_volume

11 Suppl 9

pub_type

杂志文章
  • Augmented annotation and orthologue analysis for Oryctolagus cuniculus: Better Bunny.

    abstract:BACKGROUND:The rabbit is an important model organism used in a wide range of biomedical research. However, the rabbit genome is still sparsely annotated, thus prohibiting extensive functional analysis of gene sets derived from whole-genome experiments. We developed a web-based application that provides augmented annota...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/1471-2105-13-84

    authors: Craig DB,Kannan S,Dombkowski AA

    更新日期:2012-05-08 00:00:00

  • The development of a comparison approach for Illumina bead chips unravels unexpected challenges applying newest generation microarrays.

    abstract:BACKGROUND:The MAQC project demonstrated that microarrays with comparable content show inter- and intra-platform reproducibility. However, since the content of gene databases still increases, the development of new generations of microarrays covering new content is mandatory. To better understand the potential challeng...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/1471-2105-10-186

    authors: Eggle D,Debey-Pascher S,Beyer M,Schultze JL

    更新日期:2009-06-18 00:00:00

  • Ranking analysis of F-statistics for microarray data.

    abstract:BACKGROUND:Microarray technology provides an efficient means for globally exploring physiological processes governed by the coordinated expression of multiple genes. However, identification of genes differentially expressed in microarray experiments is challenging because of their potentially high type I error rate. Me...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/1471-2105-9-142

    authors: Tan YD,Fornage M,Xu H

    更新日期:2008-03-06 00:00:00

  • Ciruvis: a web-based tool for rule networks and interaction detection using rule-based classifiers.

    abstract:BACKGROUND:The use of classification algorithms is becoming increasingly important for the field of computational biology. However, not only the quality of the classification, but also its biological interpretation is important. This interpretation may be eased if interacting elements can be identified and visualized, ...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/1471-2105-15-139

    authors: Bornelöv S,Marillet S,Komorowski J

    更新日期:2014-05-12 00:00:00

  • An evidence-based approach to identify aging-related genes in Caenorhabditis elegans.

    abstract:BACKGROUND:Extensive studies have been carried out on Caenorhabditis elegans as a model organism to elucidate mechanisms of aging and the effects of perturbing known aging-related genes on lifespan and behavior. This research has generated large amounts of experimental data that is increasingly difficult to integrate a...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/s12859-015-0469-4

    authors: Callahan A,Cifuentes JJ,Dumontier M

    更新日期:2015-02-07 00:00:00

  • Phylogenomics and sequence-structure-function relationships in the GmrSD family of Type IV restriction enzymes.

    abstract:BACKGROUND:GmrSD is a modification-dependent restriction endonuclease that specifically targets and cleaves glucosylated hydroxymethylcytosine (glc-HMC) modified DNA. It is encoded either as two separate single-domain GmrS and GmrD proteins or as a single protein carrying both domains. Previous studies suggested that G...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/s12859-015-0773-z

    authors: Machnicka MA,Kaminska KH,Dunin-Horkawicz S,Bujnicki JM

    更新日期:2015-10-23 00:00:00

  • Extending the evaluation of Genia Event task toward knowledge base construction and comparison to Gene Regulation Ontology task.

    abstract:BACKGROUND:The third edition of the BioNLP Shared Task was held with the grand theme "knowledge base construction (KB)". The Genia Event (GE) task was re-designed and implemented in light of this theme. For its final report, the participating systems were evaluated from a perspective of annotation. To further explore t...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/1471-2105-16-S10-S3

    authors: Kim JD,Kim JJ,Han X,Rebholz-Schuhmann D

    更新日期:2015-01-01 00:00:00

  • Frnakenstein: multiple target inverse RNA folding.

    abstract:BACKGROUND:RNA secondary structure prediction, or folding, is a classic problem in bioinformatics: given a sequence of nucleotides, the aim is to predict the base pairs formed in its three dimensional conformation. The inverse problem of designing a sequence folding into a particular target structure has only more rece...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/1471-2105-13-260

    authors: Lyngsø RB,Anderson JW,Sizikova E,Badugu A,Hyland T,Hein J

    更新日期:2012-10-09 00:00:00

  • Reporting FDR analogous confidence intervals for the log fold change of differentially expressed genes.

    abstract:BACKGROUND:Gene expression experiments are common in molecular biology, for example in order to identify genes which play a certain role in a specified biological framework. For that purpose expression levels of several thousand genes are measured simultaneously using DNA microarrays. Comparing two distinct groups of t...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/1471-2105-12-288

    authors: Jung K,Friede T,Beissbarth T

    更新日期:2011-07-15 00:00:00

  • GibbsST: a Gibbs sampling method for motif discovery with enhanced resistance to local optima.

    abstract:BACKGROUND:Computational discovery of transcription factor binding sites (TFBS) is a challenging but important problem of bioinformatics. In this study, improvement of a Gibbs sampling based technique for TFBS discovery is attempted through an approach that is widely known, but which has never been investigated before:...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/1471-2105-7-486

    authors: Shida K

    更新日期:2006-11-04 00:00:00

  • Integrating gene expression and GO classification for PCA by preclustering.

    abstract:BACKGROUND:Gene expression data can be analyzed by summarizing groups of individual gene expression profiles based on GO annotation information. The mean expression profile per group can then be used to identify interesting GO categories in relation to the experimental settings. However, the expression profiles present...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/1471-2105-11-158

    authors: De Haan JR,Piek E,van Schaik RC,de Vlieg J,Bauerschmidt S,Buydens LM,Wehrens R

    更新日期:2010-03-26 00:00:00

  • An automatic method to calculate heart rate from zebrafish larval cardiac videos.

    abstract:BACKGROUND:Zebrafish is a widely used model organism for studying heart development and cardiac-related pathogenesis. With the ability of surviving without a functional circulation at larval stages, strong genetic similarity between zebrafish and mammals, prolific reproduction and optically transparent embryos, zebrafi...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/s12859-018-2166-6

    authors: Kang CP,Tu HC,Fu TF,Wu JM,Chu PH,Chang DT

    更新日期:2018-05-09 00:00:00

  • Ontological representation, integration, and analysis of LINCS cell line cells and their cellular responses.

    abstract:BACKGROUND:Aiming to understand cellular responses to different perturbations, the NIH Common Fund Library of Integrated Network-based Cellular Signatures (LINCS) program involves many institutes and laboratories working on over a thousand cell lines. The community-based Cell Line Ontology (CLO) is selected as the defa...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/s12859-017-1981-5

    authors: Ong E,Xie J,Ni Z,Liu Q,Sarntivijai S,Lin Y,Cooper D,Terryn R,Stathias V,Chung C,Schürer S,He Y

    更新日期:2017-12-21 00:00:00

  • Maximizing Kolmogorov Complexity for accurate and robust bright field cell segmentation.

    abstract:BACKGROUND:Analysis of cellular processes with microscopic bright field defocused imaging has the advantage of low phototoxicity and minimal sample preparation. However bright field images lack the contrast and nuclei reporting available with florescent approaches and therefore present a challenge to methods that segme...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/1471-2105-15-32

    authors: Mohamadlou H,Shope JC,Flann NS

    更新日期:2014-01-30 00:00:00

  • The G protein-coupled receptors in the pufferfish Takifugu rubripes.

    abstract:BACKGROUND:Guanine protein-coupled receptors (GPCRs) constitute a eukaryotic transmembrane protein family and function as "molecular switches" in the second messenger cascades and are found in all organisms between yeast and humans. They form the single, biggest drug-target family due to their versatility of action and...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/1471-2105-12-S1-S3

    authors: Sarkar A,Kumar S,Sundar D

    更新日期:2011-02-15 00:00:00

  • Simple binary segmentation frameworks for identifying variation in DNA copy number.

    abstract:BACKGROUND:Variation in DNA copy number, due to gains and losses of chromosome segments, is common. A first step for analyzing DNA copy number data is to identify amplified or deleted regions in individuals. To locate such regions, we propose a circular binary segmentation procedure, which is based on a sequence of nes...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/1471-2105-13-277

    authors: Yang TY

    更新日期:2012-10-30 00:00:00

  • Improving ontologies by automatic reasoning and evaluation of logical definitions.

    abstract:BACKGROUND:Ontologies are widely used to represent knowledge in biomedicine. Systematic approaches for detecting errors and disagreements are needed for large ontologies with hundreds or thousands of terms and semantic relationships. A recent approach of defining terms using logical definitions is now increasingly bein...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/1471-2105-12-418

    authors: Köhler S,Bauer S,Mungall CJ,Carletti G,Smith CL,Schofield P,Gkoutos GV,Robinson PN

    更新日期:2011-10-27 00:00:00

  • Protein network prediction and topological analysis in Leishmania major as a tool for drug target selection.

    abstract:BACKGROUND:Leishmaniasis is a virulent parasitic infection that causes a worldwide disease burden. Most treatments have toxic side-effects and efficacy has decreased due to the emergence of resistant strains. The outlook is worsened by the absence of promising drug targets for this disease. We have taken a computationa...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/1471-2105-11-484

    authors: Flórez AF,Park D,Bhak J,Kim BC,Kuchinsky A,Morris JH,Espinosa J,Muskus C

    更新日期:2010-09-27 00:00:00

  • Large scale statistical inference of signaling pathways from RNAi and microarray data.

    abstract:BACKGROUND:The advent of RNA interference techniques enables the selective silencing of biologically interesting genes in an efficient way. In combination with DNA microarray technology this enables researchers to gain insights into signaling pathways by observing downstream effects of individual knock-downs on gene ex...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/1471-2105-8-386

    authors: Froehlich H,Fellmann M,Sueltmann H,Poustka A,Beissbarth T

    更新日期:2007-10-15 00:00:00

  • Identification of germ cell-specific genes in mammalian meiotic prophase.

    abstract:BACKGROUND:Mammalian germ cells undergo meiosis to produce sperm or eggs, haploid cells that are primed to meet and propagate life. Meiosis is initiated by retinoic acid and meiotic prophase is the first and most complex stage of meiosis when homologous chromosomes pair to exchange genetic information. Errors in meiosi...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/1471-2105-14-72

    authors: Li Y,Ray D,Ye P

    更新日期:2013-02-27 00:00:00

  • Kavosh: a new algorithm for finding network motifs.

    abstract:BACKGROUND:Complex networks are studied across many fields of science and are particularly important to understand biological processes. Motifs in networks are small connected sub-graphs that occur significantly in higher frequencies than in random networks. They have recently gathered much attention as a useful concep...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/1471-2105-10-318

    authors: Kashani ZR,Ahrabian H,Elahi E,Nowzari-Dalini A,Ansari ES,Asadi S,Mohammadi S,Schreiber F,Masoudi-Nejad A

    更新日期:2009-10-04 00:00:00

  • ARACNE: an algorithm for the reconstruction of gene regulatory networks in a mammalian cellular context.

    abstract:BACKGROUND:Elucidating gene regulatory networks is crucial for understanding normal cell physiology and complex pathologic phenotypes. Existing computational methods for the genome-wide "reverse engineering" of such networks have been successful only for lower eukaryotes with simple genomes. Here we present ARACNE, a n...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/1471-2105-7-S1-S7

    authors: Margolin AA,Nemenman I,Basso K,Wiggins C,Stolovitzky G,Dalla Favera R,Califano A

    更新日期:2006-03-20 00:00:00

  • Correction to: Similarities and differences between variants called with human reference genome HG19 or HG38.

    abstract::After publication of this supplement article. ...

    journal_title:BMC bioinformatics

    pub_type: 已发布勘误

    doi:10.1186/s12859-019-2776-7

    authors: Pan B,Kusko R,Xiao W,Zheng Y,Liu Z,Xiao C,Sakkiah S,Guo W,Gong P,Zhang C,Ge W,Shi L,Tong W,Hong H

    更新日期:2019-05-15 00:00:00

  • Unsupervised deep learning reveals prognostically relevant subtypes of glioblastoma.

    abstract:BACKGROUND:One approach to improving the personalized treatment of cancer is to understand the cellular signaling transduction pathways that cause cancer at the level of the individual patient. In this study, we used unsupervised deep learning to learn the hierarchical structure within cancer gene expression data. Deep...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/s12859-017-1798-2

    authors: Young JD,Cai C,Lu X

    更新日期:2017-10-03 00:00:00

  • Constructing patch-based ligand-binding pocket database for predicting function of proteins.

    abstract:BACKGROUND:Many of solved tertiary structures of unknown functions do not have global sequence and structural similarities to proteins of known function. Often functional clues of unknown proteins can be obtained by predicting small ligand molecules that bind to the proteins. METHODS:In our previous work, we have deve...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/1471-2105-13-S2-S7

    authors: Sael L,Kihara D

    更新日期:2012-03-13 00:00:00

  • SLR: a scaffolding algorithm based on long reads and contig classification.

    abstract:BACKGROUND:Scaffolding is an important step in genome assembly that orders and orients the contigs produced by assemblers. However, repetitive regions in contigs usually prevent scaffolding from producing accurate results. How to solve the problem of repetitive regions has received a great deal of attention. In the pas...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/s12859-019-3114-9

    authors: Luo J,Lyu M,Chen R,Zhang X,Luo H,Yan C

    更新日期:2019-10-30 00:00:00

  • Decoding HMMs using the k best paths: algorithms and applications.

    abstract:BACKGROUND:Traditional algorithms for hidden Markov model decoding seek to maximize either the probability of a state path or the number of positions of a sequence assigned to the correct state. These algorithms provide only a single answer and in practice do not produce good results. RESULTS:We explore an alternative...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/1471-2105-11-S1-S28

    authors: Brown DG,Golod D

    更新日期:2010-01-18 00:00:00

  • Bioinformatics approach to predict target genes for dysregulated microRNAs in hepatocellular carcinoma: study on a chemically-induced HCC mouse model.

    abstract:BACKGROUND:Hepatocellular carcinoma (HCC) is an aggressive epithelial tumor which shows very poor prognosis and high rate of recurrence, representing an urgent problem for public healthcare. MicroRNAs (miRNAs/miRs) are a class of small, non-coding RNAs that attract great attention because of their role in regulation of...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/s12859-015-0836-1

    authors: Del Vecchio F,Gallo F,Di Marco A,Mastroiaco V,Caianiello P,Zazzeroni F,Alesse E,Tessitore A

    更新日期:2015-12-10 00:00:00

  • MicroSyn: a user friendly tool for detection of microsynteny in a gene family.

    abstract:BACKGROUND:The traditional phylogeny analysis within gene family is mainly based on DNA or amino acid sequence homologies. However, these phylogenetic tree analyses are not suitable for those "non-traditional" gene families like microRNA with very short sequences. For the normal protein-coding gene families, low bootst...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/1471-2105-12-79

    authors: Cai B,Yang X,Tuskan GA,Cheng ZM

    更新日期:2011-03-18 00:00:00

  • Generating quantitative models describing the sequence specificity of biological processes with the stabilized matrix method.

    abstract:BACKGROUND:Many processes in molecular biology involve the recognition of short sequences of nucleic-or amino acids, such as the binding of immunogenic peptides to major histocompatibility complex (MHC) molecules. From experimental data, a model of the sequence specificity of these processes can be constructed, such as...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/1471-2105-6-132

    authors: Peters B,Sette A

    更新日期:2005-05-31 00:00:00