Genome-Wide Association Study (GWAS)
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Cytogenomic SNP Microarray - Fetal ARUP Test Code 2002366 Maternal Contamination Study Fetal Spec Fetal Cells
Patient Report |FINAL Client: Example Client ABC123 Patient: Patient, Example 123 Test Drive Salt Lake City, UT 84108 DOB 2/13/1987 UNITED STATES Gender: Female Patient Identifiers: 01234567890ABCD, 012345 Physician: Doctor, Example Visit Number (FIN): 01234567890ABCD Collection Date: 00/00/0000 00:00 Cytogenomic SNP Microarray - Fetal ARUP test code 2002366 Maternal Contamination Study Fetal Spec Fetal Cells Single fetal genotype present; no maternal cells present. Fetal and maternal samples were tested using STR markers to rule out maternal cell contamination. This result has been reviewed and approved by Maternal Specimen Yes Cytogenomic SNP Microarray - Fetal Abnormal * (Ref Interval: Normal) Test Performed: Cytogenomic SNP Microarray- Fetal (ARRAY FE) Specimen Type: Direct (uncultured) villi Indication for Testing: Patient with 46,XX,t(4;13)(p16.3;q12) (Quest: EN935475D) ----------------------------------------------------------------- ----- RESULT SUMMARY Abnormal Microarray Result (Male) Unbalanced Translocation Involving Chromosomes 4 and 13 Classification: Pathogenic 4p Terminal Deletion (Wolf-Hirschhorn syndrome) Copy number change: 4p16.3p16.2 loss Size: 5.1 Mb 13q Proximal Region Deletion Copy number change: 13q11q12.12 loss Size: 6.1 Mb ----------------------------------------------------------------- ----- RESULT DESCRIPTION This analysis showed a terminal deletion (1 copy present) involving chromosome 4 within 4p16.3p16.2 and a proximal interstitial deletion (1 copy present) involving chromosome 13 within 13q11q12.12. This -
Remodeling Adipose Tissue Through in Silico Modulation of Fat Storage For
Chénard et al. BMC Systems Biology (2017) 11:60 DOI 10.1186/s12918-017-0438-9 RESEARCHARTICLE Open Access Remodeling adipose tissue through in silico modulation of fat storage for the prevention of type 2 diabetes Thierry Chénard2, Frédéric Guénard3, Marie-Claude Vohl3,4, André Carpentier5, André Tchernof4,6 and Rafael J. Najmanovich1* Abstract Background: Type 2 diabetes is one of the leading non-infectious diseases worldwide and closely relates to excess adipose tissue accumulation as seen in obesity. Specifically, hypertrophic expansion of adipose tissues is related to increased cardiometabolic risk leading to type 2 diabetes. Studying mechanisms underlying adipocyte hypertrophy could lead to the identification of potential targets for the treatment of these conditions. Results: We present iTC1390adip, a highly curated metabolic network of the human adipocyte presenting various improvements over the previously published iAdipocytes1809. iTC1390adip contains 1390 genes, 4519 reactions and 3664 metabolites. We validated the network obtaining 92.6% accuracy by comparing experimental gene essentiality in various cell lines to our predictions of biomass production. Using flux balance analysis under various test conditions, we predict the effect of gene deletion on both lipid droplet and biomass production, resulting in the identification of 27 genes that could reduce adipocyte hypertrophy. We also used expression data from visceral and subcutaneous adipose tissues to compare the effect of single gene deletions between adipocytes from each -
Identification of Candidate Biomarkers and Pathways Associated with Type 1 Diabetes Mellitus Using Bioinformatics Analysis
bioRxiv preprint doi: https://doi.org/10.1101/2021.06.08.447531; this version posted June 9, 2021. The copyright holder for this preprint (which was not certified by peer review) is the author/funder. All rights reserved. No reuse allowed without permission. Identification of candidate biomarkers and pathways associated with type 1 diabetes mellitus using bioinformatics analysis Basavaraj Vastrad1, Chanabasayya Vastrad*2 1. Department of Biochemistry, Basaveshwar College of Pharmacy, Gadag, Karnataka 582103, India. 2. Biostatistics and Bioinformatics, Chanabasava Nilaya, Bharthinagar, Dharwad 580001, Karnataka, India. * Chanabasayya Vastrad [email protected] Ph: +919480073398 Chanabasava Nilaya, Bharthinagar, Dharwad 580001 , Karanataka, India bioRxiv preprint doi: https://doi.org/10.1101/2021.06.08.447531; this version posted June 9, 2021. The copyright holder for this preprint (which was not certified by peer review) is the author/funder. All rights reserved. No reuse allowed without permission. Abstract Type 1 diabetes mellitus (T1DM) is a metabolic disorder for which the underlying molecular mechanisms remain largely unclear. This investigation aimed to elucidate essential candidate genes and pathways in T1DM by integrated bioinformatics analysis. In this study, differentially expressed genes (DEGs) were analyzed using DESeq2 of R package from GSE162689 of the Gene Expression Omnibus (GEO). Gene ontology (GO) enrichment analysis, REACTOME pathway enrichment analysis, and construction and analysis of protein-protein interaction (PPI) network, modules, miRNA-hub gene regulatory network and TF-hub gene regulatory network, and validation of hub genes were then performed. A total of 952 DEGs (477 up regulated and 475 down regulated genes) were identified in T1DM. GO and REACTOME enrichment result results showed that DEGs mainly enriched in multicellular organism development, detection of stimulus, diseases of signal transduction by growth factor receptors and second messengers, and olfactory signaling pathway. -
Mechanisms of Action of Coxiella Burnetii Effectors Inferred from Host-Pathogen Protein Interactions
RESEARCH ARTICLE Mechanisms of action of Coxiella burnetii effectors inferred from host-pathogen protein interactions Anders Wallqvist1, Hao Wang1, Nela Zavaljevski1, Vesna MemisÏević1, Keehwan Kwon2, Rembert Pieper2, Seesandra V. Rajagopala2, Jaques Reifman1* 1 Department of Defense Biotechnology High Performance Computing Software Applications Institute, Telemedicine and Advanced Technology Research Center, U.S. Army Medical Research and Materiel Command, Fort Detrick, Maryland, United States of America, 2 J. Craig Venter Institute, Rockville, Maryland, United States of America a1111111111 a1111111111 * [email protected] a1111111111 a1111111111 a1111111111 Abstract Coxiella burnetii is an obligate Gram-negative intracellular pathogen and the etiological agent of Q fever. Successful infection requires a functional Type IV secretion system, which OPEN ACCESS translocates more than 100 effector proteins into the host cytosol to establish the infection, Citation: Wallqvist A, Wang H, Zavaljevski N, restructure the intracellular host environment, and create a parasitophorous vacuole where MemisÏević V, Kwon K, Pieper R, et al. (2017) the replicating bacteria reside. We used yeast two-hybrid (Y2H) screening of 33 selected C. Mechanisms of action of Coxiella burnetii effectors burnetii effectors against whole genome human and murine proteome libraries to generate inferred from host-pathogen protein interactions. a map of potential host-pathogen protein-protein interactions (PPIs). We detected 273 PLoS ONE 12(11): e0188071. https://doi.org/ 10.1371/journal.pone.0188071 unique interactions between 20 pathogen and 247 human proteins, and 157 between 17 pathogen and 137 murine proteins. We used orthology to combine the data and create a sin- Editor: Zhao-Qing Luo, Purdue University, UNITED STATES gle host-pathogen interaction network containing 415 unique interactions between 25 C. -
A High Throughput, Functional Screen of Human Body Mass Index GWAS Loci Using Tissue-Specific Rnai Drosophila Melanogaster Crosses Thomas J
Washington University School of Medicine Digital Commons@Becker Open Access Publications 2018 A high throughput, functional screen of human Body Mass Index GWAS loci using tissue-specific RNAi Drosophila melanogaster crosses Thomas J. Baranski Washington University School of Medicine in St. Louis Aldi T. Kraja Washington University School of Medicine in St. Louis Jill L. Fink Washington University School of Medicine in St. Louis Mary Feitosa Washington University School of Medicine in St. Louis Petra A. Lenzini Washington University School of Medicine in St. Louis See next page for additional authors Follow this and additional works at: https://digitalcommons.wustl.edu/open_access_pubs Recommended Citation Baranski, Thomas J.; Kraja, Aldi T.; Fink, Jill L.; Feitosa, Mary; Lenzini, Petra A.; Borecki, Ingrid B.; Liu, Ching-Ti; Cupples, L. Adrienne; North, Kari E.; and Province, Michael A., ,"A high throughput, functional screen of human Body Mass Index GWAS loci using tissue-specific RNAi Drosophila melanogaster crosses." PLoS Genetics.14,4. e1007222. (2018). https://digitalcommons.wustl.edu/open_access_pubs/6820 This Open Access Publication is brought to you for free and open access by Digital Commons@Becker. It has been accepted for inclusion in Open Access Publications by an authorized administrator of Digital Commons@Becker. For more information, please contact [email protected]. Authors Thomas J. Baranski, Aldi T. Kraja, Jill L. Fink, Mary Feitosa, Petra A. Lenzini, Ingrid B. Borecki, Ching-Ti Liu, L. Adrienne Cupples, Kari E. North, and Michael A. Province This open access publication is available at Digital Commons@Becker: https://digitalcommons.wustl.edu/open_access_pubs/6820 RESEARCH ARTICLE A high throughput, functional screen of human Body Mass Index GWAS loci using tissue-specific RNAi Drosophila melanogaster crosses Thomas J. -
PCR Analysis of Androgen-Regulated Genes in Human Lncap Prostate Cancer Cells
Oncogene (2009) 28, 2051–2063 & 2009 Macmillan Publishers Limited All rights reserved 0950-9232/09 $32.00 www.nature.com/onc ONCOGENOMICS Microarray coupled to quantitative RT–PCR analysis of androgen-regulated genes in human LNCaP prostate cancer cells S Ngan, EA Stronach, A Photiou, J Waxman, S Ali and L Buluwela Department of Oncology, Imperial College London, London, UK The androgen receptor (AR) mediates the growth- 2006). The importance of AR in male development is stimulatory effects of androgens in prostate cancer cells. shown by the androgen insensitivity syndromes char- Identification of androgen-regulated genes in prostate acterized by mutations in the AR gene (Gottlieb et al., cancer cells is therefore of considerable importance for 2004). The prostate is a prototypical androgen-depen- defining the mechanisms of prostate-cancer development dent organ (Cunha et al., 1987; Davies and Eaton, 1991) and progression. Although several studies have used and prostate cancer, which has become the most microarrays to identify AR-regulated genes in prostate commonly diagnosed cancer in males in the western cancer cell lines and in prostate tumours, we present here world and is the second leading cause of male cancer the results of gene expression microarray profiling of the death, is androgen-dependent for its growth (Carter and androgen-responsive LNCaP prostate-cancer cell line Coffey, 1990; McConnell, 1991). Therefore, treatment is treated withR1881 for theidentification of androgen- directed at inhibiting prostate cancer growth by regulated genes. We show that the expression of 319 genes suppressing the action of the endogenous androgen or is stimulated by 24 hafter R1881 addition, witha similar its production. -
NRF1) Coordinates Changes in the Transcriptional and Chromatin Landscape Affecting Development and Progression of Invasive Breast Cancer
Florida International University FIU Digital Commons FIU Electronic Theses and Dissertations University Graduate School 11-7-2018 Decipher Mechanisms by which Nuclear Respiratory Factor One (NRF1) Coordinates Changes in the Transcriptional and Chromatin Landscape Affecting Development and Progression of Invasive Breast Cancer Jairo Ramos [email protected] Follow this and additional works at: https://digitalcommons.fiu.edu/etd Part of the Clinical Epidemiology Commons Recommended Citation Ramos, Jairo, "Decipher Mechanisms by which Nuclear Respiratory Factor One (NRF1) Coordinates Changes in the Transcriptional and Chromatin Landscape Affecting Development and Progression of Invasive Breast Cancer" (2018). FIU Electronic Theses and Dissertations. 3872. https://digitalcommons.fiu.edu/etd/3872 This work is brought to you for free and open access by the University Graduate School at FIU Digital Commons. It has been accepted for inclusion in FIU Electronic Theses and Dissertations by an authorized administrator of FIU Digital Commons. For more information, please contact [email protected]. FLORIDA INTERNATIONAL UNIVERSITY Miami, Florida DECIPHER MECHANISMS BY WHICH NUCLEAR RESPIRATORY FACTOR ONE (NRF1) COORDINATES CHANGES IN THE TRANSCRIPTIONAL AND CHROMATIN LANDSCAPE AFFECTING DEVELOPMENT AND PROGRESSION OF INVASIVE BREAST CANCER A dissertation submitted in partial fulfillment of the requirements for the degree of DOCTOR OF PHILOSOPHY in PUBLIC HEALTH by Jairo Ramos 2018 To: Dean Tomás R. Guilarte Robert Stempel College of Public Health and Social Work This dissertation, Written by Jairo Ramos, and entitled Decipher Mechanisms by Which Nuclear Respiratory Factor One (NRF1) Coordinates Changes in the Transcriptional and Chromatin Landscape Affecting Development and Progression of Invasive Breast Cancer, having been approved in respect to style and intellectual content, is referred to you for judgment. -
Evidence for a Gene Influencing Haematocrit on Chromosome 6Q23–24: Genomewide Scan in the Framingham Heart Study J-P Lin, C J O’Donnell, D Levy, L a Cupples
75 LETTER TO JMG J Med Genet: first published as 10.1136/jmg.2004.021097 on 5 January 2005. Downloaded from Evidence for a gene influencing haematocrit on chromosome 6q23–24: genomewide scan in the Framingham Heart Study J-P Lin, C J O’Donnell, D Levy, L A Cupples ............................................................................................................................... J Med Genet 2005;42:75–79. doi: 10.1136/jmg.2004.021097 or more than 40 years, a number of studies have revealed that high haematocrit (HCT) levels are associated with Key points increased risk for cerebrovascular disease,1–3 cardiovas- F 4–6 7–9 cular disease (CVD), peripheral vascular disease, and all N Elevated haematocrit (HCT) levels are associated with cause mortality.5 10–11 During 34 years of follow up in more increased risk for vascular diseases. We carried out than 5200 individuals, a Framingham investigation demon- genome scans for quantitative trait loci (QTL) on HCT strated that increased HCT was significantly associated with and on haemoglobin (HGB), a correlated trait. increased risks for CVD, coronary heart disease, and N The heritabilities were estimated as 41% for HCT and 5 myocardial infarction in both men and women. A significant 45% for HGB. increase in all cause mortality for individuals with very low or N The genomewide linkage analysis revealed evidence of high HCT was also observed.5 Although HCT levels were related to other vascular risk factors, the risk associated with significant linkage for HCT to chromosome 6q23-24, an elevated HCT persisted after accounting for other risk with a lod score of 3.4 at location 136 cM. -
Prediction of Human Disease Genes by Human-Mouse Conserved Coexpression Analysis
Prediction of Human Disease Genes by Human-Mouse Conserved Coexpression Analysis Ugo Ala1., Rosario Michael Piro1., Elena Grassi1, Christian Damasco1, Lorenzo Silengo1, Martin Oti2, Paolo Provero1*, Ferdinando Di Cunto1* 1 Molecular Biotechnology Center, Department of Genetics, Biology and Biochemistry, University of Turin, Turin, Italy, 2 Department of Human Genetics and Centre for Molecular and Biomolecular Informatics, University Medical Centre Nijmegen, Nijmegen, The Netherlands Abstract Background: Even in the post-genomic era, the identification of candidate genes within loci associated with human genetic diseases is a very demanding task, because the critical region may typically contain hundreds of positional candidates. Since genes implicated in similar phenotypes tend to share very similar expression profiles, high throughput gene expression data may represent a very important resource to identify the best candidates for sequencing. However, so far, gene coexpression has not been used very successfully to prioritize positional candidates. Methodology/Principal Findings: We show that it is possible to reliably identify disease-relevant relationships among genes from massive microarray datasets by concentrating only on genes sharing similar expression profiles in both human and mouse. Moreover, we show systematically that the integration of human-mouse conserved coexpression with a phenotype similarity map allows the efficient identification of disease genes in large genomic regions. Finally, using this approach on 850 OMIM loci characterized by an unknown molecular basis, we propose high-probability candidates for 81 genetic diseases. Conclusion: Our results demonstrate that conserved coexpression, even at the human-mouse phylogenetic distance, represents a very strong criterion to predict disease-relevant relationships among human genes. Citation: Ala U, Piro RM, Grassi E, Damasco C, Silengo L, et al. -
Product Data Sheet
For research purposes only, not for human use Product Data Sheet HEBP2 siRNA (Mouse) Catalog # Source Reactivity Applications CRM5616 Synthetic M RNAi Description siRNA to inhibit HEBP2 expression using RNA interference Specificity HEBP2 siRNA (Mouse) is a target-specific 19-23 nt siRNA oligo duplexes designed to knock down gene expression. Form Lyophilized powder Gene Symbol HEBP2 Alternative Names SOUL; Heme-binding protein 2; Protein SOUL Entrez Gene 56016 (Mouse) SwissProt Q9WU63 (Mouse) Purity > 97% Quality Control Oligonucleotide synthesis is monitored base by base through trityl analysis to ensure appropriate coupling efficiency. The oligo is subsequently purified by affinity-solid phase extraction. The annealed RNA duplex is further analyzed by mass spectrometry to verify the exact composition of the duplex. Each lot is compared to the previous lot by mass spectrometry to ensure maximum lot-to-lot consistency. Components We offers pre-designed sets of 3 different target-specific siRNA oligo duplexes of mouse HEBP2 gene. Each vial contains 5 nmol of lyophilized siRNA. The duplexes can be transfected individually or pooled together to achieve knockdown of the target gene, which is most commonly assessed by qPCR or western blot. Our siRNA oligos are also chemically modified (2’-OMe) at no extra charge for increased stability and enhanced knockdown in vitro and in vivo. Directions for Use We recommends transfection with 100 nM siRNA 48 to 72 hours prior to cell lysis. Application key: E- ELISA, WB- Western blot, IH- Immunohistochemistry, -
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Systematic Evaluation of Genes and Genetic Variants Associated with Type 1 Diabetes Susceptibility This information is current as Ramesh Ram, Munish Mehta, Quang T. Nguyen, Irma of September 23, 2021. Larma, Bernhard O. Boehm, Flemming Pociot, Patrick Concannon and Grant Morahan J Immunol 2016; 196:3043-3053; Prepublished online 24 February 2016; doi: 10.4049/jimmunol.1502056 Downloaded from http://www.jimmunol.org/content/196/7/3043 Supplementary http://www.jimmunol.org/content/suppl/2016/02/19/jimmunol.150205 Material 6.DCSupplemental http://www.jimmunol.org/ References This article cites 44 articles, 5 of which you can access for free at: http://www.jimmunol.org/content/196/7/3043.full#ref-list-1 Why The JI? Submit online. • Rapid Reviews! 30 days* from submission to initial decision by guest on September 23, 2021 • No Triage! Every submission reviewed by practicing scientists • Fast Publication! 4 weeks from acceptance to publication *average Subscription Information about subscribing to The Journal of Immunology is online at: http://jimmunol.org/subscription Permissions Submit copyright permission requests at: http://www.aai.org/About/Publications/JI/copyright.html Email Alerts Receive free email-alerts when new articles cite this article. Sign up at: http://jimmunol.org/alerts The Journal of Immunology is published twice each month by The American Association of Immunologists, Inc., 1451 Rockville Pike, Suite 650, Rockville, MD 20852 Copyright © 2016 by The American Association of Immunologists, Inc. All rights reserved. Print ISSN: 0022-1767 Online ISSN: 1550-6606. The Journal of Immunology Systematic Evaluation of Genes and Genetic Variants Associated with Type 1 Diabetes Susceptibility Ramesh Ram,*,† Munish Mehta,*,† Quang T. -
EBV)Episomes in Latently Ulfected B-Lymphocytes by Mediating Their
-----TU --:-* -- * - - -- - -- *.- -- RECONSTITUTION OF EPSTEIN-BARR NUCLEAR ANMGEN 1 (EBNA1)- MEDIATED PLASMID SEGREGATION IN BUDDING YEAST REQUIRES EUMAN EBP2 Priya Kapoor A thesis subrnitted in codomiity with the requirements for the de- of Master of Science Graduate Department of Molecular and Medical Genetics University of Toronto @ Copyright by Priya Kapoor, 2001 The author has gfaated a non- L'auteur a accordé une licence non exclusive licence dowing the exclusive permettant (i la National Li- of Canada to Biblioth&que nationale du Canada de reproduce, loan, distribute or sell reproduire, prêter, distribuer ou copies of this thesis in microfonn, vendre des copies de cette thèse sous paper or electronic formats. la forme de microfiche/film, de reproduction sur papier ou sur format blectronique. The author retains ownership of the L'auteur conserve la propriété du copyright in this thesis. Neitha the droit d'auteur qui protège cette thèse. thesis nor substantial extracts &om it Ni la thèse ni des extraits substantiels may be printed or othefwjse de celle-ci ne doivent être imprimés reproduced without the author's ou autrement reproduits sans son Reconstitution of Epstein-Barr Nuclear Antigen 1 (EBNA1)-Mediateâ Plasrnid -Lu- -- A Segregation In Budding Yeast Rquires Human EBP2 by Priya Kapoor Masten of Science, Graduate Department of Molecular and Medical Geneticq University of Toronto, 2001 ABSTRACT Epstein-Barr nuclear antigm 1 (EBNAl ) govems the stable segregation of Epstein- Barr virus (EBV)episomes in latently Ulfected B-lymphocytes by mediating their attachment to the host metaphase chromosomes. The EBNAl residues that mediate chromosome attachrnent and DNA segregation activity bind to the human EBP2 (hEBP2) protein, which is a component of the cellular metaphase chromosomes.