Дисертації з теми "Genetics and genomics/functional genomics"
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Burnham, Katie. "Functional genomics of the sepsis response." Thesis, University of Oxford, 2017. http://ora.ox.ac.uk/objects/uuid:cb98af40-1b66-4966-a643-ae8dfec2c122.
Повний текст джерелаBlischak, John David. "Investigating susceptibility to tuberculosis using functional genomics approaches." Thesis, The University of Chicago, 2016. http://pqdtopen.proquest.com/#viewpdf?dispub=10238063.
Повний текст джерелаA major goal of human genetics is to characterize the role of genetic variation on complex, polygenic phenotypes. With the discovery from genome-wide association studies (GWAS) that many associated variants have a small effect size and are located in non-coding regions of the genome, there has been a large effort to collect functional genomics data. The hope is that a better understanding of how the genome functions in diverse developmental states and environments will provide insight into the context-specific activity of associated non-coding variants. My research applies this paradigm to the complex phenotype of susceptibility to develop tuberculosis (TB). It has been estimated that 10% of individuals infected with Mycobacterium tuberculosis (MTB) progress to active disease. Despite being heritable, very few genetic variants have been associated with susceptibility to TB. For my studies, I use RNA sequencing (RNA-seq) to interrogate genome-wide transcript levels in in vitro cellular models. In Chapter 2, I use a joint Bayesian model to identify genes which are differentially expressed in macrophages only after infection with MTB and related mycobacteria, but not other bacterial pathogens. In Chapter 3, I build a support vector machine model to classify individuals as susceptible or resistant to TB based on the gene expression levels in their dendritic cells. In Chapter 4, I characterize the technical variation introduced by batch processing of single-cell RNA-seq (scRNA-seq) and propose an effective study design that accounts for technical variation while minimizing replication. In addition to providing insight into the genes important for the innate immune response to MTB infection, my work is informative for the design and analysis of future functional genomics experiments. (Note: Supplementary tables are provided in a .zip file available online. Captions for the tables are provided within the dissertation.)
Moustafa, Ahmed. "Evolutionary and functional genomics of photosynthetic eukaryotes." Diss., University of Iowa, 2009. https://ir.uiowa.edu/etd/311.
Повний текст джерелаMizrachi, Eshchar. "Functional genomics and systems genetics of cellulose biosynthesis in Eucalyptus." Diss., University of Pretoria, 2013. http://hdl.handle.net/2263/79771.
Повний текст джерелаThesis (PhD)--University of Pretoria, 2013.
Wood and Fibre Molecular Genetics (WFMG) Programme
National Research Foundation (NRF)
Technology and Human Resources for Industry Programme (THRIP)
Genetics
PhD
Unrestricted
Radhakrishnan, Jayachandran. "Functional genomics of severe sepsis and septic shock." Thesis, University of Oxford, 2013. http://ora.ox.ac.uk/objects/uuid:2b2afd65-82e0-4847-b7ae-960635b7e884.
Повний текст джерелаShao, Diane Donghui. "Functional Genomics Approaches to Identify and Characterize Oncogenic Signaling." Thesis, Harvard University, 2013. http://dissertations.umi.com/gsas.harvard:11076.
Повний текст джерелаSteinberg, Julia. "Functional genomics analyses of neuropsychiatric and neurodevelopmental disorders." Thesis, University of Oxford, 2014. http://ora.ox.ac.uk/objects/uuid:e47d1ac2-de92-47d8-864b-dac0bf6669e8.
Повний текст джерелаMiller, Michael Ryan. "Functional Genomics of Nervous System Development and Disease." Thesis, University of Oregon, 2011. http://hdl.handle.net/1794/12102.
Повний текст джерелаThe goal of functional genomics is to elucidate the relationship between an organism's genotype and phenotype. A key characteristic of functional genomics is the use of genome-wide approaches as opposed to more traditional single-gene approaches. Genome-wide expression profiling is used to investigate the dynamic properties of transcriptomes, provides insights into how biological functions are encoded in genomes, and is an important technique in functional genomics. This dissertation describes the use of genome-wide expression profiling and other functional genomics techniques to address a variety of biological questions related to development and disease of the nervous system. Our results reveal novel and important insights into nervous system development and disease and demonstrate the power of functional genomics approaches for the study of nervous system biology. This dissertation also describes a novel technique called TUtagging that facilitates cell type-specific RNA isolation from intact complex tissues. The isolation of RNA from specific cell types within a complex tissue is a major limiting factor in the application of genome-wide expression profiling, and TU-tagging can be used to address a wide array of interesting and important biological questions. This dissertation includes previously published and unpublished co-authored material.
Committee in charge: Dr. John Postlethwait, Chair; Dr. Chris Doe, Advisor; Dr. Bruce Bowerman, Member; Dr. Patrick Phillips, Member; Dr. Tom Stevens, Outside Member
Butler, Heather. "Functional genomics : analysis of polytene region 38 of Drosophila melanogaster." Thesis, National Library of Canada = Bibliothèque nationale du Canada, 1999. http://www.collectionscanada.ca/obj/s4/f2/dsk1/tape7/PQDD_0016/MQ55041.pdf.
Повний текст джерелаBarona, Gómez Francisco. "Functional and structural genomics of amino acid metabolism in Streptomyces coelicolor." Thesis, University of Warwick, 2003. http://wrap.warwick.ac.uk/59424/.
Повний текст джерелаGapp, Bianca. "Functional genomics and compound mode-of-action screening in haploid human cells." Thesis, University of Oxford, 2017. https://ora.ox.ac.uk/objects/uuid:0c2ce8f8-15f3-447f-9117-8953329bd4ac.
Повний текст джерелаWills, Quintin Frank. "The genetics of miRNA and mRNA expression in human lymphoblastoid cell lines." Thesis, University of Oxford, 2012. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.572601.
Повний текст джерелаPolke, James M. "Functional genomics in the stroke-prone spontaneously hypertensive rat : genome wide and candidate gene analysis." Thesis, University of Glasgow, 2008. http://theses.gla.ac.uk/258/.
Повний текст джерелаDavenport, Emma Elisabeth. "Functional genomics of variation in response to infection : insights into severe sepsis and common variable immune deficiency disorders." Thesis, University of Oxford, 2014. http://ora.ox.ac.uk/objects/uuid:528edf20-f948-4a9c-aa23-1e295b11c8cc.
Повний текст джерелаNapper, Piers. "Ecological functional genomics : the genetic basis of phenotypic in Daphnia pulex." Thesis, Lancaster University, 2009. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.543998.
Повний текст джерелаVarotto, Claudio. "Genetic and molecular dissection of photosystem I functions in Arabidopsis and related functional genomics." [S.l.] : [s.n.], 2002. http://deposit.ddb.de/cgi-bin/dokserv?idn=96461779X.
Повний текст джерелаTreviño, Alvarado Victor Manuel. "Identifying the molecular components that matter : a statistical modelling approach to linking functional genomics data to cell physiology." Thesis, University of Birmingham, 2007. http://etheses.bham.ac.uk//id/eprint/636/.
Повний текст джерелаAvirovik, Dragana. "Transformation of a Transposon Construct into Tomato for Functional Genomics Studies." Thesis, Virginia Tech, 2014. http://hdl.handle.net/10919/24867.
Повний текст джерелаMaster of Science
Chittaranjan, Suganthi. "A functional genomics approach identifies novel genes involved in steroid-hormove induced programmed cell death in Drosophila." Thesis, University of British Columbia, 2008. http://hdl.handle.net/2429/2725.
Повний текст джерелаSilparasetty, Shobha Lavanya. "Cloning of "Animal Cryptochrome" cDNA from the Model Organism CHLAMYDOMONAS REINHARDTII for Functional Analysis of Its Protein Product." TopSCHOLAR®, 2009. http://digitalcommons.wku.edu/theses/117.
Повний текст джерелаLu, Timothy Te Hua [Verfasser]. "Of long-tails, microarrays, and marker sets : integrative approaches in functional genomics, population genetics and genetic epidemiology / Timothy Te Hua Lu." Kiel : Universitätsbibliothek Kiel, 2009. http://d-nb.info/1019868899/34.
Повний текст джерелаFields, Christopher J. "Functional and Expression Analysis of a Novel Basement Membrane Degrader in Drosophila Melanogaster." TopSCHOLAR®, 2016. http://digitalcommons.wku.edu/theses/1633.
Повний текст джерелаRaza, Abbas. "Genetic And Functional Approaches To Understanding Autoimmune And Inflammatory Pathologies." ScholarWorks @ UVM, 2020. https://scholarworks.uvm.edu/graddis/1175.
Повний текст джерелаMichino, Mayako. "Developing new computational methods for characterization ORFS with unknown function." Thesis, Georgia Institute of Technology, 2003. http://hdl.handle.net/1853/25208.
Повний текст джерелаKhuzwayo, Sabelo Lethukuthula. "Functional analysis of subtelomeric breakage motifs using yeast as a model organism." Thesis, Georgia Institute of Technology, 2011. http://hdl.handle.net/1853/41119.
Повний текст джерелаCarnero-Montoro, Elena 1985. "Genomic and functional approaches to genetic adaptation." Doctoral thesis, Universitat Pompeu Fabra, 2013. http://hdl.handle.net/10803/291115.
Повний текст джерелаLa base genética de los carácteres que han contribuido a la adaptación de los organismos y las especies ha sido siempre una pregunta central en biología evolutiva. Gracias a la acumulación masiva de datos de variabilidad genética, en los últimos años se ha podido detectar en el genoma diferentes señales de selección positiva y también localizar cientos de genes candidatos que han podido tener un papel en la adaptación de las poblaciones a diferentes ambientes. Sin embargo en estos estudios, donde no hay una hipótesis a priori, se desconoce qué variantes dentro de estos genes fueron realmente las que proporcionaron una ventaja selectiva y por qué. Además, la compleja arquitectura del genoma y la naturaleza poligénica de muchos carácteres hace que sea difícil detectar casos más complejos de adaptación. En esta tesis se intenta resolver algunos de estos problemas. En primer lugar, mediante un enfoque evolutivo y funcional, hemos descifrado el rol adaptativo de dos variantes genéticas, una en un receptor linfocitario y la otra en un transportador de zinc, que probablemente fueron seleccionadas por conferir resistencia a patógenos. En segundo lugar, mediante el análisis de datos de polimorfismo y divergencia conjuntamente, también hemos detectado distintos mecanismos de acción de la selección natural en distintos pathways y entre elementos codificantes y elementos no codificantes reguladores en chimpancé.
Liu, Yiyong. "1, Structural and Functional Studies of Human Replication Protein A; 2 DNA Damage Responses and DNA Repair Defects in Laminopathy-Based Premature Aging." Digital Commons @ East Tennessee State University, 2007. https://dc.etsu.edu/etd/2062.
Повний текст джерелаRands, Chris M. D. "Analyses of functional sequence in mammalian and avian genomes." Thesis, University of Oxford, 2014. http://ora.ox.ac.uk/objects/uuid:27e0ac20-eb27-423c-9493-a8a1c6cc57b8.
Повний текст джерелаNguyen, Peter H. T. (Peter Hung Trung). "Fine-Mapping Tools : an interactive framework for dissecting disease-associated genetic loci with functional genomics data." Thesis, Massachusetts Institute of Technology, 2017. http://hdl.handle.net/1721.1/113121.
Повний текст джерелаThis electronic version was submitted by the student author. The certified thesis is available in the Institute Archives and Special Collections.
Cataloged from student-submitted PDF version of thesis.
Includes bibliographical references (pages 57-58).
Fine mapping causal SNPs from GWAS summary statistics is hard. Although many frame- works exist to support fine mapping, some of which leverage epigenomic contexts to increase predictive power, they fail to provide interactivity. Here, we introduce Fine-Mapping Tools (fm-tools), a framework for doing interactive and iterative fine mapping. Fm-tools provides a harmonized data store and implements a number of algorithms for fine mapping -- one of which is the custom RiVIERA-mini, an efficient Bayesian inference framework -- and exposes them via a rich API that can be plugged into a variety of services (e.g., web applications for visualization). Most importantly, fm-tools allows scientists to interactively and iteratively explore dynamically generated hypotheses, as demonstrated by a case study for celiac disease. In summary, fm-tools standardizes the way fine mapping is done, reduces the overhead of fine mapping for scientists and of algorithm development for researchers, and paves the way towards achieving real-time personalized medicine.
by Peter HT Nguyen.
M. Eng.
Nadkarni, Aditi A. "Functional analysis of the Rad51d (E233G) breast cancer associated polymorphism and a pharmacogenetic evaluation of RAD51D status." Connect to full text in OhioLINK ETD Center, 2008. http://rave.ohiolink.edu/etdc/view?acc%5Fnum=mco1222877984.
Повний текст джерела"In partial fulfillment of the requirements for the degree of Doctor of Philosophy in Biomedical Sciences." Title from title page of PDF document. Bibliography: pages 73-77, 93-95, 109-111, 145-172.
Liao, Rachel Grace. "Functional Studies of Candidate Oncogenes in Non-Small Cell Lung Cancer." Thesis, Harvard University, 2013. http://dissertations.umi.com/gsas.harvard:11173.
Повний текст джерелаCarl, Sarah Hamilton. "Evolutionary patterns of group B Sox binding and function in Drosophila." Thesis, University of Cambridge, 2015. https://www.repository.cam.ac.uk/handle/1810/247430.
Повний текст джерелаWhite, Robert B. "The developmental function of Pax7 : chromatin-immunoprecipitation discovery of Pax7 target genes." Thesis, Edith Cowan University, Research Online, Perth, Western Australia, 2007. https://ro.ecu.edu.au/theses/279.
Повний текст джерелаSchnetz, Michael Paul. "Investigation of the Molecular Function of CHD7, the Protein Implicated in CHARGE Syndrome, Using Next-Generation Genomics." Case Western Reserve University School of Graduate Studies / OhioLINK, 2010. http://rave.ohiolink.edu/etdc/view?acc_num=case1275581022.
Повний текст джерелаBeach, Joshua S. "Functional Characterization of rai1 in Zebrafish." VCU Scholars Compass, 2015. http://scholarscompass.vcu.edu/etd/3826.
Повний текст джерелаKacharia, Fenil Rashmin. "Investigating the Origin and Functions of a Novel Small RNA in Escherichia coli." PDXScholar, 2016. http://pdxscholar.library.pdx.edu/open_access_etds/3106.
Повний текст джерелаArif, Km Taufiqul. "Functional association of Micrornas with molecular subtypes of breast cancer." Thesis, Queensland University of Technology, 2021. https://eprints.qut.edu.au/213110/1/Km%20Taufiqul_Arif_Thesis.pdf.
Повний текст джерелаKamps-Hughes, Nicholas. "Massively Parallel Sequencing-Based Analyses of Genome and Protein Function." Thesis, University of Oregon, 2015. http://hdl.handle.net/1794/19234.
Повний текст джерелаDesai, Megha. "Structural and Functional Characterization of the MBD2-NuRD Co-Repressor Complex." VCU Scholars Compass, 2014. http://scholarscompass.vcu.edu/etd/3617.
Повний текст джерелаPicariello, Tyler August. "Meckelin Functions in the Guided Movement and Orientation of Basal Bodies Prior to Duplication in Paramecium tetraurelia." ScholarWorks @ UVM, 2015. http://scholarworks.uvm.edu/graddis/367.
Повний текст джерелаJöngren, Markus. "Gene expression in brains from red jungle fowl (Gallus gallus) that differ in fear response." Thesis, Linköping University, The Department of Physics, Chemistry and Biology, 2008. http://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-11830.
Повний текст джерелаThe fear response of two different captive populations of red jungle fowl (rjf, Gallus gallus) was measured in three different tests, a ground predator test, an aerial predator test and a tonic immobility test. The two populations originated from Copenhagen zoo (Cop) and Götala research station (Got) but had been kept together for four generations. Earlier generations had a confirmed difference in fearfulness where the Cop birds exhibited a higher degree of fear response than Got birds (Håkansson and Jensen, 2005; Håkansson et al., 2007). The most and least fearful birds of each sex and population were identified and used in a gene expression study. The midbrain regions from the candidate birds were collected and RNA was isolated from each brain. The RNA was then reversed transcribed to cDNA which was used in a cDNA microarray experiment. 13 significantly differentially expressed genes were found between the fearful and non-fearful females. Among others were the neuroprotein Axin1, two potential DNA/RNA regulating proteins and an unknown transcript in the Quantitative Trait Locus 1(QTL 1), a well studied QTL on chromosome one with substantial effect on both behaviour and morphology during domestication (Schütz et al., 2002). This thesis succeeds in finding a difference in gene expression between fearful and non fearful female rjf but not between males. It fails in identifying gene expression differences between the two populations. Finally, the found differentiated genes suggest a potential molecular mechanism controlling the fear response in fowl.
Häkkinen, Suvi T. "A functional genomics approach to the study of alkaloid biosynthesis and metabolism in Nicotiana tabacum and Hyoscyamus muticus cell cultures /." [Espoo, Finland] : VTT, 2008. http://www.vtt.fi/inf/pdf/publications/2008/P696.pdf.
Повний текст джерелаSquiban, Barbara. "Criblage par ARN interférence du génome complet de C. elegans pour l' identification de nouveaux gènes impliqués dans l' immunité innée." Thesis, Aix-Marseille, 2012. http://www.theses.fr/2012AIXM4056.
Повний текст джерелаTo investigate innate immune signaling, we study the interaction of C. elegans with the fungus Drechmeria coniospora. One of the responses of the worm to this infection is the up-regulation of a variety of antimicrobial peptide (AMP) genes in the epidermis. Transgenic worms carrying a GFP reporter gene under the control of an AMP promoter fluoresce green after infection by D. coniospora. If a gene required for AMP gene expression is inactivated, the reporter strain will not turn green upon infection. Using this fluorescent read-out, we have been able to screen for signaling molecules required for AMP gene expression using a quantitative semi-automated RNAi approach. We have screened two RNAi libraries that together cover 95% of the ca. 20,000 genes in the C. elegans genome and we obtained 360 high-confidence candidates that reduced the level of induction of green fluorescence after infection, and correspond to 343 genes. A further phenotypic characterization allowed the candidates to be grouped into distinct functional categories and allowed the identification of both a receptor acting upstream the p38 MAPK pathway necessary for the activation of the AMPs, and the implication of stress granules during infection. Altogether, the screen data and its analysis represent the foundation for the establishment of a comprehensive description of the signaling network regulating the innate immune system of the worm and will shed light on the complex interactions between immunity and other physiological processes at the molecular, cellular and organismal level
Gore, Panter Shamone Robinette. "Genetic and Functional Studies of LociAssociated with Atrial Fibrillation." Case Western Reserve University School of Graduate Studies / OhioLINK, 2014. http://rave.ohiolink.edu/etdc/view?acc_num=case1396521127.
Повний текст джерелаBeka, Sylvia Enobong. "The genomics of Type 1 Diabetes susceptibility regions and effect of regulatory SNPs." Thesis, University of Hertfordshire, 2016. http://hdl.handle.net/2299/17200.
Повний текст джерелаCordova, Caio Mauricio Mendes de. "Desenvolvimento de plasmídeos replicativos artificiais para transformação de Mycoplasma pulmonis, M. capricolum e M. mycoïdes subsp. mycoïdes, e dirupção do gene da hemolisina A de M. pulmonis por recombinação homóloga." Universidade de São Paulo, 2002. http://www.teses.usp.br/teses/disponiveis/9/9136/tde-20082008-112933/.
Повний текст джерелаMycoplasmas are the smallest microorganisms capable of self replication known to date, responsible for many diseases in man and animals, infecting also plants and insects. They constitute a large group of bacteria, classified in different genera in the class Mollicutes, which main common characteristic, besides the small genome, is the absence of a cell wall. Mycoplasma mycoïdes subsp. mycoïdes SC, responsible for the Bovine Contagious Pleuropneumonia, was the first microorganism of this class of bacteria to be identified. That is a quite severe disease, with high morbidity and mortality rates. Mycoplasma mycoïdes subsp. mycoïdes LC is responsible mainly for cases of Caprine Contagious Pleuropneumonia, mastitis in cattle, and also arthritis in goats and sheep in less extension. M. capricolum is a pathogen of goats, responsible mainly by cases of arthritis with large economic impact in veterinary medicine. M. pulmonis is a rodent pathogen, considered to be the best experimental model for studying respiratory mycoplasmoses. M. genitalium, the smallest microorganism capable of self replication, is an human pathogen responsible for cases of non gonococcal urethritis, which complete chromosome sequencing has become a benchmark in the era of genomics. Functional studies of these mycoplasma genomes, for comprehension of their biology and pathogenicity, requires the development of efficient genetic tools. In the present work, in silico analysis of sequences of the putative origin of chromosome replication (oriC) region of these mycoplasmas demonstrates the existence of putative DnaA boxes located around the dnaA gene. These oriC regions were functionally characterized after cloning into artificial vectors and transformation of mycoplasmas with the resulting recombinant plasmids. The plasmid pMPO1, which contains the M. pulmonis oriC region, has integrated into the mycoplasma chromosome by homologous recombination after a few in vitro passages. Reduction of this oriC to the fragment containing only the DnaA boxes located upstream or downstream the dnaA gene could not produce plasmids able to replicate in M. pulmonis, except when these two fragments were cloned in the same vector, spaced by tetracycline resistance gene tetM. An internal fragment of the M. pulmonis hemolysine A gene (hlyA) was cloned into these oriC plasmids, and the resulting vectors were used to transform the mycoplasma. Integration of these disruption vectors by one crossing-over with the hlyA gene could be documented. Therefore, these oriC plasmids may become valuable genetic tools for studying the role of specific genes of mycoplasmas, specially those potentially involved in pathogenesis.
Zhang, Hanshuo. "Large-scale identification of functional genes regulating cancer cell migration and metastasis using the self-assembled cell microarray." Diss., Georgia Institute of Technology, 2013. http://hdl.handle.net/1853/49066.
Повний текст джерелаGustafsson, Susanne. "Population genetic analyses in the orchid genus Gymnadenia : a conservation genetic perspective." Doctoral thesis, Uppsala : Acta Universitatis Upsaliensis : Univ.-bibl [distributör], 2003. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-3305.
Повний текст джерелаHedberg, Lilia. "Identification of obesity-associated SNPs in the human genome : Method development and implementation for SOLiD sequencing data analysis." Thesis, Linköpings universitet, Institutionen för klinisk och experimentell medicin, 2010. http://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-57932.
Повний текст джерелаKolkailah, Naiyerah F. "Genes Encoding Flower- and Root-Specific Functions are More Resistant to Fractionation than Globally Expressed Genes in Brassica rapa." DigitalCommons@CalPoly, 2016. https://digitalcommons.calpoly.edu/theses/1586.
Повний текст джерела