introduction to genome wide association studies

... association to CM KRT5, G138E substitution [12] No association BCC, no association to CM 7q32 adjacent to KLF14 [12] No association BCC, no association to CM MTAP rs4636294 ref [37] Not known CM PLA2G6 ... 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 ... (weak) 9p21 adjacent to MTAP (rs7023329) [28] Blonde hair, green and brown eyes, freckling Skin sensitivity, CM 9p21 adjacent to CDKN2A/B [12] No association BCC, no association to CM KRT5, G138E...

Ngày tải lên: 11/08/2014, 12:20

... stratification in genome- wide association studies Nat Genet 2006, 38: 904-909 10 Li M, Li C, Guan W: Evaluation of coverage variation of SNP chips for genome- wide association studies Eur J Hum ... erythematosus Nat Genet 2008, 40:211216 Ioannidis JPA: Non-replication and inconsistency in the genome- wide association setting Hum Hered 2007, 64:203213 Neale BM, Purcell S: The positives, protocols ... KL, Gaffney PM: A genome- wide association scan identifies tumour necrosis factor alpha inducible protein (TNFAIP3/A20) as a susceptibility locus for systemic lupus erythematosus Nat Genet 2008,...

Ngày tải lên: 09/08/2014, 14:22

... determined by comparison between 112 rheumatoid arthritis patients and 45 healthy individuals Abbreviations GWAS, genome- wide association studies; RA, rheumatoid arthritis Competing interests This ... http://arthritis-research.com/content/12/2/401 Page of Table Candidate genes identified from rheumatoid arthritis genome- wide association studies Gene GeneID PMID Gene expression (up or down) Microarray P valuesa CD244 ... article as: Sugino H, et al.: DNA microarray analysis of rheumatoid arthritis susceptibility genes identified by genome- wide association studies Arthritis Research & Therapy 2010, 12:401 ...

Ngày tải lên: 12/08/2014, 11:23

... CAD Genome wide association analysis, which is a powerful tool to identify genetic variants, is commonly employed to identify novel genetic variants currently Most genome wide association studies ... significances Study I: Genome wide scan of single nucleotide polymorphisms associated with myocardial infarction –Chapter Genome wide association analysis is a powerful tool to identify genetic ... common diseases Genome wide association studies (GWAS) have uncovered multiple variants associated with CAD or MI in Caucasians It is thus desirable to extend the method to the genetic studies of...

Ngày tải lên: 09/09/2015, 08:17

... of the Generalized Tournament Approach in Genomewide Association Studies 72 5.1 Introduction to the multiple testing for genome- wide association studies 73 5.2 The generalized tournament screening ... 1.3.1 Feature selection methods in genome- wide association studies In genome- wide association studies, a large number of statistical studies have been developed to detect genetic variants associated ... employed to develop better strategies to treat and prevent the disease Chapter1: Introduction In comparison with other approaches for mapping genetic variants, genome- wide association studies need to...

Ngày tải lên: 11/09/2015, 16:05

... 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 genome wide significance in this study Stage 3: testing TB association ... CMH test was 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 genome wide significance in ... 1.003, to indicate that population stratification is minimal to cause significant inflation, hence further adjustments were not made to the test statistics In order to validate promising associations...

Ngày tải lên: 06/03/2014, 04:20

... (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 ... will be identified using an unbiased genome- wide association approach Herein, we used a DNA pooling technology to perform the first genome- wide association study in Behçet's disease We identify ... 129:170-175 Kowanetz K, Crosetto N, Haglund K, Schmidt MH, Heldin CH, Dikic I: Suppressors of T-cell receptor signaling Sts-1 and Sts2 bind to Cbl and inhibit endocytosis of receptor tyrosine kinases...

Ngày tải lên: 09/08/2014, 14:20

... 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 ... Acknowledgements We thank Jennifer Dackor for her curation of the genome- wide association studies of smoking behavior and editorial assistance This work was funded by the University of North ... 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...

Ngày tải lên: 11/08/2014, 12:20

... to 0.76 [10] MS behaves as a prototypic complex genetic disorder, and although a single-gene etiology cannot be ruled out for a subset of pedigrees, data from recent genome- wide association studies ... 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...

Ngày tải lên: 11/08/2014, 12:21

... tests) AND linkage AND genome- scan OR scan OR genome OR genomewide OR genome- wide OR LOD OR microsatellite) Limits were set on the search including; published in English, human studies, published ... reversibility to β2-adrenergic receptor agonist and smoking history to define asthma [8] Analyses were completed with and without the Dutch families Total IgE levels were analysed in the genome scans ... FEV1 (b) Ped = total genotyped pedigrees; AFF = total genotyped asthmatic cases, Ind = total genotyped individuals; Mks = total autosomal microsatellite markers; Wt = weighting factor (c) Sp =...

Ngày tải lên: 12/08/2014, 15:21

... size is restricted to 50MB (max size = 3, r2=0.95) 135 xvii Chapter Introduction 1.1 1.1.1 Motivation Genome- wide association studies (GWAS) A genome- wide association study (GWAS) ... studies 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- wide association ... tasks and has been successfully applied to the identification of genome- wide associations in casecontrol studies RF can also be applied to population association studies with multivariate quantitative...

Ngày tải lên: 09/09/2015, 10:06

... 64 4.2.3 Genome- wide mapping procedure 67 4.2.4 4.3 Introduction to logistic model for TDT 62 Genome- wide TDT for QTL mapping 71 Numerical studies ... has not been applied to genome- wide association study 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 ... TDT by a penalized logistic model to extend the TDT to genome- wide association study By virtue of this model, we convert the linkage study for gene mapping to variable selection problem A two-step...

Ngày tải lên: 11/09/2015, 16:06

... Manhattan plot of Genome- Wide Association Study for NBA in LW_2 196 SI 2: Manhattan plot of Genome- Wide Association Study for NBA in LW_2a 196 SI 3: Manhattan plot of Genome- Wide Association Study ... Manhattan plot of Genome- Wide Association Study for NBA in LW_3 197 SI 5: Manhattan plot of Genome- Wide Association Study for NBA in LR_1 197 SI 6: Manhattan plot of Genome- Wide Association Study ... Manhattan plot of Genome- Wide Association Study for NBA in LR_3 198 SI 8: Manhattan plot of Genome- Wide Association Study for NBA in LR_3a 198 SI 9: Manhattan plot of Genome- Wide Association...

Ngày tải lên: 26/11/2015, 10:18

... Lowest story 12 2d story 12 × 48 3d story 12 × 24 84 " (h h K g g I) Lowest story 2d story 3d story × 16 4th story × 32 " (South wing) From E to W Lowest story 2d story 3d story × 21 4th story ... on lower story Second Story × 20 Third story × 16 Fourth story × 12 -52 Section f f g g: Lower story 22 × 132 Second story 22 × 110 Third story 22 × 88 Fourth story 22 × 66 396 Total number ... Historical Introduction to Studies Among by Adolphus Bandelier HISTORICAL INTRODUCTION TO STUDIES AMONG THE SEDENTARY INDIANS OF NEW MEXICO PART I BY AD F BANDELIER I HISTORICAL INTRODUCTION Part I...

Ngày tải lên: 08/03/2014, 22:20

... itemset whose support is greater than or equal to a minsup threshold © Tan,Steinbach, Kumar Introduction to Data Mining Definition: Association Rule Association Rule – An implication expression ... Diaper ) © Tan,Steinbach, Kumar Introduction to Data Mining Association Rule Mining Task Given a set of transactions T, the goal of association rule mining is to find all rules having – support ... = !!! © Tan,Steinbach, Kumar Introduction to Data Mining Computational Complexity Given d unique items: – Total number of itemsets = 2d – Total number of possible association rules:  d   d...

Ngày tải lên: 15/03/2014, 09:20

... Kumar Introduction to Data Mining 20 Multi-level Association Rules Food Electronics Bread Computers Milk Wheat Skim White Foremost © Tan,Steinbach, Kumar 2% Desktop Kemps Introduction to Data ... Apply statistical test to determine interestingness of the rule © Tan,Steinbach, Kumar Introduction to Data Mining 13 Statistics-based Methods How to determine whether an association rule interesting? ... How to apply association analysis formulation to nonasymmetric binary variables? Example of Association Rule: {Number of Pages ∈[5,10) ∧ (Browser=Mozilla)} → {Buy = No} © Tan,Steinbach, Kumar Introduction...

Ngày tải lên: 15/03/2014, 09:20

... contained on lower story Second Story × 20 Third Story × Fourth Story × 12 52 f f g g:— Lower Story 22 × 132 Second Story 22 × 110 Third Story 22 × 88 Fourth Story 22 × Section 66 396 Total number of ... unable as yet to ascertain when they first came to notice According to Antonio de Oca Sarmiento, Letter to the General Francisco de Gorraez Beaumont, dated 22 Sept., 1667, inMandamiento del Señor ... indebted to General Simpson, to Messrs Jackson and Holmes, and to Mr Lewis H Morgan To reach this region, Coronado had to pass either between Acoma and Zuñi, or between the Zuñi and the Moqui towns...

Ngày tải lên: 15/03/2014, 12:20

... needs to decide what methodology to use to examine genetic variation There are two general approaches: genome- wide association studies and candidate gene association studies Genome- wide association ... used widely in the critically ill In contrast to linkage analysis, association studies detect association between genetic variants and disease across individuals in large populations Most association ... transmit this allele to affected children more frequently than expected [22] Gene association studies can be cohort or case-control Cohort studies are time consuming and expensive to Page of (page...

Ngày tải lên: 13/08/2014, 02:24

... categories related to apoptosis regulation Also identified was the 'EGF receptor pathway', individual members of which are known to become phosphorylated/activated by BCR/ABL1 Taken together, these ... −0.2 −0.1 0.1 First MDS component 0.2 The ontological analysis of genome- wide studies relies fundamentally on the validity and continued growth of ontologies providing annotations of gene function ... remain to be established Conclusion We have presented novel ontological analysis methods constituting attractive alternatives to existing approaches Hence, this work contributes to the repertoire...

Ngày tải lên: 14/08/2014, 07:21