... However, to account for multiple testing a stringent Bonferroni corrected alpha of P = 5.25 × 10-7 (0.05/95,207) is required to declare genomewide significance in this study Stage 3: testing TB association ... performed to stratify the association analysis by cohort A stringent Bonferroni corrected alpha of P = 5.25 × 10-7 (0.05/95,207) is required to declare genomewide significance in this study However, ... contributing factors, and the mechanism that triggers active disease is unlikely to be simplistic Aiming to expand TB disease knowledge, this study took a comprehensive search across the genome, and...
... (interferon regulatory factor 1) [6], TNF (tumor necrosis factor) [7,8], and PTPN22 (protein tyrosine phosphatase, non-receptor type 22) [9] Despite efforts to discover the genetic contribution to the disease ... be identified using an unbiased genome- wideassociation approach Herein, we used a DNA pooling technology to perform the first genome- wideassociationstudy in Behçet's disease We identify five ... involvement 44 (29%) A total of 152 patients were included in this study We have identified 10 possible candidate genes based on the unbiased genome- wide pooling associationstudy Individual case-control...
... The limitations of risk factors as prognostic tools N Engl J Med 2006, 355:2615-2617 Drgon T, Montoya I, Johnson C, Liu QR, Walther D, Hamer D, Uhl GR: Genomewide association for nicotine dependence ... regardless of genotype Abbreviations CHRNA, nicotinic cholinergic receptor; CPD, cigarettes smoked per day; GWAS, genome- wideassociation study; NRT, nicotine replacement therapy; SNP, single nucleotide ... value to serve as clinical markers of heightened risk of nicotine dependence and persistent smoking in the general population [9] To translate into a clinically valid marker, a risk factor has to...
... is restricted to 50MB (max size = 3, r2=0.95) 135 xvii Chapter Introduction 1.1 1.1.1 Motivation Genome- wideassociation studies (GWAS) A genome- wideassociationstudy (GWAS) searches ... Foremost, I thank my mentor, Professor Wong Limsoon He has given me the academic freedom to explore a variety of topics in bioinformatics, which brings me to the field of genome- wideassociation studies ... preliminary 2.3.1 Study design The study design of GWAS can be categorized into two types: retrospective study and prospective study The most common retrospective study is the case-control study, in...
... TDT by a penalized logistic model to extend the TDT to genome- wideassociationstudy By virtue of this model, we convert the linkage study for gene mapping to variable selection problem A two-step ... has not been applied to genome- wideassociationstudy yet In this thesis, we provide an efficient logistic model and an algorithm to search the causal genes in the genome- wide scope This algorithm ... application of TDT to genomewide associationstudy has not been tackled so far Since the rapid improvement in SNP genotyping technology makes it possible to find the genetic contributions to common disease,...
... plot of Genome- WideAssociationStudy for NBA in LW_2 196 SI 2: Manhattan plot of Genome- WideAssociationStudy for NBA in LW_2a 196 SI 3: Manhattan plot of Genome- WideAssociationStudy for ... plot of Genome- WideAssociationStudy for NBA in LW_3 197 SI 5: Manhattan plot of Genome- WideAssociationStudy for NBA in LR_1 197 SI 6: Manhattan plot of Genome- WideAssociationStudy for ... plot of Genome- WideAssociationStudy for NBA in LR_3 198 SI 8: Manhattan plot of Genome- WideAssociationStudy for NBA in LR_3a 198 SI 9: Manhattan plot of Genome- WideAssociation Study...
... associationto CM KRT5, G138E substitution [12] No association BCC, no associationto CM 7q32 adjacent to KLF14 [12] No association BCC, no associationto CM MTAP rs4636294 ref [37] Not known CM PLA2G6 ... Montgomery GW, Spector TD: Genome- wideassociationstudy identifies variants at 9p21 and 22q13 associated with development of cutaneous nevi Nat Genet 2009, 41:915-919 Published: 27 October 2009 doi:10.1186/gm95 ... melanocortin-stimulating hormone (α-MSH) to its transmembrane receptor, Melanocortin-1-receptor (MC1R), results in stimulation of adenylate cyclase (AC) to produce cAMP An antagonist to α-MSH, called Agouti protein...
... corrects for stratification in genome- wideassociation studies Nat Genet 2006, 38: 904-909 10 Li M, Li C, Guan W: Evaluation of coverage variation of SNP chips for genome- wideassociation studies Eur ... KL, Gaffney PM: A genome- wideassociation scan identifies tumour necrosis factor alpha inducible protein (TNFAIP3/A20) as a susceptibility locus for systemic lupus erythematosus Nat Genet 2008, ... erythematosus Nat Genet 2008, 40:211216 Ioannidis JPA: Non-replication and inconsistency in the genome- wideassociation setting Hum Hered 2007, 64:203213 Neale BM, Purcell S: The positives, protocols...
... sclerosis identified by a genomewide study N Engl J Med 2007, 357:851-862 12 Australian and New Zealand Multiple Sclerosis Genetics Consortium: Genome- wideassociationstudy identifies new multiple ... receptor activity (GO:0004888) 0.0000274 Transmembrane receptor protein phosphatase activity 0.003811c Amine receptor activity Hematopoietin/interferon-class (D200-domain) cytokine receptor activity ... that failed to achieve genome- wide significance We then tested whether a significant fraction of the variance was related to contributions from additional common alleles with lower association...
... between 112 rheumatoid arthritis patients and 45 healthy individuals Abbreviations GWAS, genome- wideassociation studies; RA, rheumatoid arthritis Competing interests This study was financially ... http://arthritis-research.com/content/12/2/401 Page of Table Candidate genes identified from rheumatoid arthritis genome- wideassociation studies Gene GeneID PMID Gene expression (up or down) Microarray P valuesa CD244 605554 18794858 ... with rheumatoid arthritis Nat Genet 2003, 34:395-402 Chang X, Zhao Y, Sun S, Zhang Y, Zhu Y: The expression of PADI4 in synovium of rheumatoid arthritis Rheumatol Int 2009, 12:1411-1416 Tokuhiro...
... identifying sets of genes with similar expression patterns The two main approaches correspond to grouping or classifying genes according to their expression patterns and to represent them in a reduced ... MB, Storz G, Botstein D, Brown PO: Genomic expression programs in the response of yeast cells to environmental changes Mol Biol Cell 2000, 11:4241-4257 Genome Biology 2007, 8:R222 http://genomebiology.com/2007/8/10/R222 ... S, Pootoolal J, Robinson MD, Hughes TR: Genome- wide analysis of mRNA stability using transcription inhibitors and microarrays reveals posttranscriptional control of ribosome biogenesis factors...
... and significances Study I: Genomewide scan of single nucleotide polymorphisms associated with myocardial infarction –Chapter Genomewideassociation analysis is a powerful tool to identify genetic ... adhere to the guidelines However, much less is known about the genetic basis of CAD Genomewideassociation analysis, which is a powerful tool to identify genetic variants, is commonly employed to ... we aimed to i) Discover genetic variants associated with CAD by genomewideassociation analysis ii) Replicate the susceptibility loci reported in the two Chinese GWAS Study II: Genomewide scan...
... of the Generalized Tournament Approach in Genomewide Association Studies 72 5.1 Introduction to the multiple testing for genome- wideassociation studies 73 5.2 The generalized tournament screening ... it is hard to select truly causal features when the dimension P is large Such a problem has become especially prevalent in genome- wideassociation studies A genome- wideassociationstudy (GWAS) ... 1.3.1 Feature selection methods in genome- wideassociation studies In genome- wideassociation studies, a large number of statistical studies have been developed to detect genetic variants associated...
... that these clusters tend to contain factors that regulate temporal expression of genes in other clusters Discussion In this study we performed a genome- wideexpressionprofiling analysis on the ... gene expression - the gene expression levels change daily according to the time of a day Genome- wide microarray analysis has been used to identify genes with cyclic expression patterns at different ... identified in our experiment and genome- wide surveys of cycling genes in the mouse, rat and Drosophila The Ensembl-Compara multi-species database stores the results of genome- wide species comparisons,...
... This study comparing whole genomeexpressionprofiling of human and mouse leukocytes has identified for the first time conserved genetic programs common to all LN-DCs or specific to the plasmacytoid ... or cytoskeleton/actin binding, consistent with the particular morphology of DCs linked to the development of a high mem- Genome Biology 2008, 9:R17 http://genomebiology.com/2008/9/1/R17 Genome ... the transcription factor Mafb Reciprocally, some of the genes identified in this study as specific to LN- Genome Biology 2008, 9:R17 http://genomebiology.com/2008/9/1/R17 Genome Biology 2008,...
... parasitoids are likely to be very different, and their study, like that of responses to microbial pathogens, may reveal conserved Genome Biology 2005, 6:R94 http://genomebiology.com/2005/6/11/R94 Genome ... study of the transcriptional response of Drosophila to parasitoid attack It is the first global expression analysis of the immunologic defense of a host insect against parasitoids, and aims to ... putative transcription factor binding site motif that has not hitherto been linked to any known transcription factor The transcription factor binding sites of three known regulators of immunity were...
... gene ontology terms for genes down-regulated in bleomycin sulphate treated fibroblasts compared to controls Gene ontology term a Cell cycle 82 6.00E-16 Mitotic cell cycle 40 4.27E-15 Mitosis 33 ... of genes related to the expression of the differentiated phenotype, considered to be relevant to late normal tissue radiation injury, may be seen However the fibroblast response to bleomycin sulphate ... required to produce cell cycle arrest but not cell cytotoxicity Bleomycin sulphate is known to cause both G1/S and G2/M arrest [21] At high doses, extensive double strand DNA breaks and apoptosis...
... gene expression, relative to the mean gene expression in a standard sample normalized to *P < 0.05 CCL5, chemokine ligand 5; CTLA4, cytotoxic T-lymphocyte-associated antigen 4; LTB, lymphotoxin ... resistance to TNF blockade could be related to the effects of these cytokines on proinflammatory processes in poor responders However, the study of gene expression signatures does not allow us to make ... ANT, IT, A-LM helped to acquire the data BJVdE, PD, and FAH helped to design the study and contributed to the writing of the manuscript BRL helped to design the study and to acquire, analyze,...
... framework dissects expression patterns into those common to both species, as well as those that are exclusive to one dataset or the other Another study by Rifkin et al [14] investigated genome- wideexpression ... differences in genome- wideexpression data of six organisms PLoS Biol 2004, 2:E9 11 Quackenbush J: Microarrays - guilt by association Science 2003, 302:240-241 Genome Biology 2004, 5:232 http://genomebiology.com/2004/5/7/232 ... multiple organisms, leading to a metagene co -expression network A set of metagenes that are densely connected to each other in the co -expression network are considered to share the same function...
... provide a less powerful cell system tostudy imprinting compared to primary fibroblasts, they offer the possibility to look for determinants of nonheritable allelicexpression since the cells have ... the odorant receptor genes as well as genes encoding immunoglobulins, T-cell receptors, interleukins, and natural killer cell receptors [26-30] Historically, RME was linked to a subset of genes ... possible mechanism for the observed AE [33] In this study, we utilize a genome- wide method [32] to determine strongly biased AE in the transcriptome using family-based cell panels from two cell...