A two-phase procedure for non-normal quantitative trait genetic association study.

Abstract:

BACKGROUND:The nonparametric trend test (NPT) is well suitable for identifying the genetic variants associated with quantitative traits when the trait values do not satisfy the normal distribution assumption. If the genetic model, defined according to the mode of inheritance, is known, the NPT derived under the given genetic model is optimal. However, in practice, the genetic model is often unknown beforehand. The NPT derived from an uncorrected model might result in loss of power. When the underlying genetic model is unknown, a robust test is preferred to maintain satisfactory power. RESULTS:We propose a two-phase procedure to handle the uncertainty of the genetic model for non-normal quantitative trait genetic association study. First, a model selection procedure is employed to help choose the genetic model. Then the optimal test derived under the selected model is constructed to test for possible association. To control the type I error rate, we derive the joint distribution of the test statistics developed in the two phases and obtain the proper size. CONCLUSIONS:The proposed method is more robust than existing methods through the simulation results and application to gene DNAH9 from the Genetic Analysis Workshop 16 for associated with Anti-cyclic citrullinated peptide antibody further demonstrate its performance.

journal_name

BMC Bioinformatics

journal_title

BMC bioinformatics

authors

Zhang W,Li H,Li Z,Li Q

doi

10.1186/s12859-016-0888-x

subject

Has Abstract

pub_date

2016-01-28 00:00:00

pages

52

issn

1471-2105

pii

10.1186/s12859-016-0888-x

journal_volume

17

pub_type

杂志文章
  • In situ analysis of cross-hybridisation on microarrays and the inference of expression correlation.

    abstract:BACKGROUND:Microarray co-expression signatures are an important tool for studying gene function and relations between genes. In addition to genuine biological co-expression, correlated signals can result from technical deficiencies like hybridization of reporters with off-target transcripts. An approach that is able to...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/1471-2105-8-461

    authors: Casneuf T,Van de Peer Y,Huber W

    更新日期:2007-11-26 00:00:00

  • Homology induction: the use of machine learning to improve sequence similarity searches.

    abstract:BACKGROUND:The inference of homology between proteins is a key problem in molecular biology The current best approaches only identify approximately 50% of homologies (with a false positive rate set at 1/1000). RESULTS:We present Homology Induction (HI), a new approach to inferring homology. HI uses machine learning to...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/1471-2105-3-11

    authors: Karwath A,King RD

    更新日期:2002-04-23 00:00:00

  • Protein subcellular localization prediction based on compartment-specific features and structure conservation.

    abstract:BACKGROUND:Protein subcellular localization is crucial for genome annotation, protein function prediction, and drug discovery. Determination of subcellular localization using experimental approaches is time-consuming; thus, computational approaches become highly desirable. Extensive studies of localization prediction h...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/1471-2105-8-330

    authors: Su EC,Chiu HS,Lo A,Hwang JK,Sung TY,Hsu WL

    更新日期:2007-09-08 00:00:00

  • A computational diffusion model to study antibody transport within reconstructed tumor microenvironments.

    abstract:BACKGROUND:Antibodies revolutionized cancer treatment over the past decades. Despite their successfully application, there are still challenges to overcome to improve efficacy, such as the heterogeneous distribution of antibodies within tumors. Tumor microenvironment features, such as the distribution of tumor and othe...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/s12859-020-03854-2

    authors: Cartaxo AL,Almeida J,Gualda EJ,Marsal M,Loza-Alvarez P,Brito C,Isidro IA

    更新日期:2020-11-17 00:00:00

  • Inclusion of the fitness sharing technique in an evolutionary algorithm to analyze the fitness landscape of the genetic code adaptability.

    abstract:BACKGROUND:The canonical code, although prevailing in complex genomes, is not universal. It was shown the canonical genetic code superior robustness compared to random codes, but it is not clearly determined how it evolved towards its current form. The error minimization theory considers the minimization of point mutat...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/s12859-017-1608-x

    authors: Santos J,Monteagudo Á

    更新日期:2017-03-27 00:00:00

  • Bison: bisulfite alignment on nodes of a cluster.

    abstract:BACKGROUND:DNA methylation changes are associated with a wide array of biological processes. Bisulfite conversion of DNA followed by high-throughput sequencing is increasingly being used to assess genome-wide methylation at single-base resolution. The relative slowness of most commonly used aligners for processing such...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/1471-2105-15-337

    authors: Ryan DP,Ehninger D

    更新日期:2014-10-18 00:00:00

  • Cyclic nucleotide binding proteins in the Arabidopsis thaliana and Oryza sativa genomes.

    abstract:BACKGROUND:Cyclic nucleotides are ubiquitous intracellular messengers. Until recently, the roles of cyclic nucleotides in plant cells have proven difficult to uncover. With an understanding of the protein domains which can bind cyclic nucleotides (CNB and GAF domains) we scanned the completed genomes of the higher plan...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/1471-2105-6-6

    authors: Bridges D,Fraser ME,Moorhead GB

    更新日期:2005-01-11 00:00:00

  • Combining sequence and network information to enhance protein-protein interaction prediction.

    abstract:BACKGROUND:Protein-protein interactions (PPIs) are of great importance in cellular systems of organisms, since they are the basis of cellular structure and function and many essential cellular processes are related to that. Most proteins perform their functions by interacting with other proteins, so predicting PPIs acc...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/s12859-020-03896-6

    authors: Liu L,Zhu X,Ma Y,Piao H,Yang Y,Hao X,Fu Y,Wang L,Peng J

    更新日期:2020-12-16 00:00:00

  • Drug-target interaction prediction using semi-bipartite graph model and deep learning.

    abstract:BACKGROUND:Identifying drug-target interaction is a key element in drug discovery. In silico prediction of drug-target interaction can speed up the process of identifying unknown interactions between drugs and target proteins. In recent studies, handcrafted features, similarity metrics and machine learning methods have...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/s12859-020-3518-6

    authors: Eslami Manoochehri H,Nourani M

    更新日期:2020-07-06 00:00:00

  • Three-dimensional modeling of chromatin structure from interaction frequency data using Markov chain Monte Carlo sampling.

    abstract:BACKGROUND:Long-range interactions between regulatory DNA elements such as enhancers, insulators and promoters play an important role in regulating transcription. As chromatin contacts have been found throughout the human genome and in different cell types, spatial transcriptional control is now viewed as a general mec...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/1471-2105-12-414

    authors: Rousseau M,Fraser J,Ferraiuolo MA,Dostie J,Blanchette M

    更新日期:2011-10-25 00:00:00

  • Sigma-RF: prediction of the variability of spatial restraints in template-based modeling by random forest.

    abstract:BACKGROUND:In template-based modeling when using a single template, inter-atomic distances of an unknown protein structure are assumed to be distributed by Gaussian probability density functions, whose center peaks are located at the distances between corresponding atoms in the template structure. The width of the Gaus...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/s12859-015-0526-z

    authors: Lee J,Lee K,Joung I,Joo K,Brooks BR,Lee J

    更新日期:2015-03-21 00:00:00

  • BiPOm: a rule-based ontology to represent and infer molecule knowledge from a biological process-centered viewpoint.

    abstract:BACKGROUND:Managing and organizing biological knowledge remains a major challenge, due to the complexity of living systems. Recently, systemic representations have been promising in tackling such a challenge at the whole-cell scale. In such representations, the cell is considered as a system composed of interlocked sub...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/s12859-020-03637-9

    authors: Henry V,Saïs F,Inizan O,Marchadier E,Dibie J,Goelzer A,Fromion V

    更新日期:2020-07-23 00:00:00

  • A Bayesian method for identifying missing enzymes in predicted metabolic pathway databases.

    abstract:BACKGROUND:The PathoLogic program constructs Pathway/Genome databases by using a genome's annotation to predict the set of metabolic pathways present in an organism. PathoLogic determines the set of reactions composing those pathways from the enzymes annotated in the organism's genome. Most annotation efforts fail to a...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/1471-2105-5-76

    authors: Green ML,Karp PD

    更新日期:2004-06-09 00:00:00

  • A compartmentalized approach to the assembly of physical maps.

    abstract:BACKGROUND:Physical maps have been historically one of the cornerstones of genome sequencing and map-based cloning strategies. They also support marker assisted breeding and EST mapping. The problem of building a high quality physical map is computationally challenging due to unavoidable noise in the input fingerprint ...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/1471-2105-10-217

    authors: Bozdag S,Close TJ,Lonardi S

    更新日期:2009-07-15 00:00:00

  • CMASA: an accurate algorithm for detecting local protein structural similarity and its application to enzyme catalytic site annotation.

    abstract:BACKGROUND:The rapid development of structural genomics has resulted in many "unknown function" proteins being deposited in Protein Data Bank (PDB), thus, the functional prediction of these proteins has become a challenge for structural bioinformatics. Several sequence-based and structure-based methods have been develo...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/1471-2105-11-439

    authors: Li GH,Huang JF

    更新日期:2010-08-27 00:00:00

  • Survival Online: a web-based service for the analysis of correlations between gene expression and clinical and follow-up data.

    abstract:BACKGROUND:Complex microarray gene expression datasets can be used for many independent analyses and are particularly interesting for the validation of potential biomarkers and multi-gene classifiers. This article presents a novel method to perform correlations between microarray gene expression data and clinico-pathol...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/1471-2105-10-S12-S10

    authors: Corradi L,Mirisola V,Porro I,Torterolo L,Fato M,Romano P,Pfeffer U

    更新日期:2009-10-15 00:00:00

  • ORFer--retrieval of protein sequences and open reading frames from GenBank and storage into relational databases or text files.

    abstract:BACKGROUND:Functional genomics involves the parallel experimentation with large sets of proteins. This requires management of large sets of open reading frames as a prerequisite of the cloning and recombinant expression of these proteins. RESULTS:A Java program was developed for retrieval of protein and nucleic acid s...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/1471-2105-3-40

    authors: Büssow K,Hoffmann S,Sievert V

    更新日期:2002-12-19 00:00:00

  • Computational approaches for isoform detection and estimation: good and bad news.

    abstract:BACKGROUND:The main goal of the whole transcriptome analysis is to correctly identify all expressed transcripts within a specific cell/tissue--at a particular stage and condition--to determine their structures and to measure their abundances. RNA-seq data promise to allow identification and quantification of transcript...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/1471-2105-15-135

    authors: Angelini C,De Canditiis D,De Feis I

    更新日期:2014-05-09 00:00:00

  • Pathogenic Bacillus anthracis in the progressive gene losses and gains in adaptive evolution.

    abstract:BACKGROUND:Sequence mutations represent a driving force of adaptive evolution in bacterial pathogens. It is especially evident in reductive genome evolution where bacteria underwent lifestyles shifting from a free-living to a strictly intracellular or host-depending life. It resulted in loss-of-function mutations and/o...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/1471-2105-10-S1-S3

    authors: Yu GX

    更新日期:2009-01-30 00:00:00

  • Accelerated large-scale multiple sequence alignment.

    abstract:BACKGROUND:Multiple sequence alignment (MSA) is a fundamental analysis method used in bioinformatics and many comparative genomic applications. Prior MSA acceleration attempts with reconfigurable computing have only addressed the first stage of progressive alignment and consequently exhibit performance limitations acco...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/1471-2105-12-466

    authors: Lloyd S,Snell QO

    更新日期:2011-12-07 00:00:00

  • Rigorous assessment and integration of the sequence and structure based features to predict hot spots.

    abstract:BACKGROUND:Systematic mutagenesis studies have shown that only a few interface residues termed hot spots contribute significantly to the binding free energy of protein-protein interactions. Therefore, hot spots prediction becomes increasingly important for well understanding the essence of proteins interactions and hel...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/1471-2105-12-311

    authors: Chen R,Chen W,Yang S,Wu D,Wang Y,Tian Y,Shi Y

    更新日期:2011-07-29 00:00:00

  • Model based analysis of real-time PCR data from DNA binding dye protocols.

    abstract:BACKGROUND:Reverse transcription followed by real-time PCR is widely used for quantification of specific mRNA, and with the use of double-stranded DNA binding dyes it is becoming a standard for microarray data validation. Despite the kinetic information generated by real-time PCR, most popular analysis methods assume c...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/1471-2105-8-85

    authors: Alvarez MJ,Vila-Ortiz GJ,Salibe MC,Podhajcer OL,Pitossi FJ

    更新日期:2007-03-09 00:00:00

  • Ab-origin: an enhanced tool to identify the sourcing gene segments in germline for rearranged antibodies.

    abstract:BACKGROUND:In the adaptive immune system, variable regions of immunoglobulin (IG) are encoded by random recombination of variable (V), diversity (D), and joining (J) gene segments in the germline. Partitioning the functional antibody sequences to their sourcing germline gene segments is vital not only for understanding...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/1471-2105-9-S12-S20

    authors: Wang X,Wu D,Zheng S,Sun J,Tao L,Li Y,Cao Z

    更新日期:2008-12-12 00:00:00

  • Automated NMR relaxation dispersion data analysis using NESSY.

    abstract:BACKGROUND:Proteins are dynamic molecules with motions ranging from picoseconds to longer than seconds. Many protein functions, however, appear to occur on the micro to millisecond timescale and therefore there has been intense research of the importance of these motions in catalysis and molecular interactions. Nuclear...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/1471-2105-12-421

    authors: Bieri M,Gooley PR

    更新日期:2011-10-27 00:00:00

  • Unsupervised fuzzy pattern discovery in gene expression data.

    abstract:BACKGROUND:Discovering patterns from gene expression levels is regarded as a classification problem when tissue classes of the samples are given and solved as a discrete-data problem by discretizing the expression levels of each gene into intervals maximizing the interdependence between that gene and the class labels. ...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/1471-2105-12-S5-S5

    authors: Wu GP,Chan KC,Wong AK

    更新日期:2011-01-01 00:00:00

  • The tumor as an organ: comprehensive spatial and temporal modeling of the tumor and its microenvironment.

    abstract:BACKGROUND:Research related to cancer is vast, and continues in earnest in many directions. Due to the complexity of cancer, a better understanding of tumor growth dynamics can be gleaned from a dynamic computational model. We present a comprehensive, fully executable, spatial and temporal 3D computational model of the...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/s12859-016-1168-5

    authors: Bloch N,Harel D

    更新日期:2016-08-24 00:00:00

  • Notos - a galaxy tool to analyze CpN observed expected ratios for inferring DNA methylation types.

    abstract:BACKGROUND:DNA methylation patterns store epigenetic information in the vast majority of eukaryotic species. The relatively high costs and technical challenges associated with the detection of DNA methylation however have created a bias in the number of methylation studies towards model organisms. Consequently, it rema...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/s12859-018-2115-4

    authors: Bulla I,Aliaga B,Lacal V,Bulla J,Grunau C,Chaparro C

    更新日期:2018-03-27 00:00:00

  • A randomized approach to speed up the analysis of large-scale read-count data in the application of CNV detection.

    abstract:BACKGROUND:The application of high-throughput sequencing in a broad range of quantitative genomic assays (e.g., DNA-seq, ChIP-seq) has created a high demand for the analysis of large-scale read-count data. Typically, the genome is divided into tiling windows and windowed read-count data is generated for the entire geno...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/s12859-018-2077-6

    authors: Wang W,Sun W,Wang W,Szatkiewicz J

    更新日期:2018-03-01 00:00:00

  • Disease gene prioritization by integrating tissue-specific molecular networks using a robust multi-network model.

    abstract:BACKGROUND:Accurately prioritizing candidate disease genes is an important and challenging problem. Various network-based methods have been developed to predict potential disease genes by utilizing the disease similarity network and molecular networks such as protein interaction or gene co-expression networks. Although...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/s12859-016-1317-x

    authors: Ni J,Koyuturk M,Tong H,Haines J,Xu R,Zhang X

    更新日期:2016-11-10 00:00:00

  • Components of the antigen processing and presentation pathway revealed by gene expression microarray analysis following B cell antigen receptor (BCR) stimulation.

    abstract:BACKGROUND:Activation of naïve B lymphocytes by extracellular ligands, e.g. antigen, lipopolysaccharide (LPS) and CD40 ligand, induces a combination of common and ligand-specific phenotypic changes through complex signal transduction pathways. For example, although all three of these ligands induce proliferation, only ...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/1471-2105-7-237

    authors: Lee JA,Sinkovits RS,Mock D,Rab EL,Cai J,Yang P,Saunders B,Hsueh RC,Choi S,Subramaniam S,Scheuermann RH,Alliance for Cellular Signaling.

    更新日期:2006-05-02 00:00:00