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Dissertations / Theses on the topic 'Mutation database'

Author: Grafiati

Published: 9 March 2023

Last updated: 31 July 2025

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1

Wright, Christopher. "Mutation analysis of relational database schemas." Thesis, University of Sheffield, 2015. http://etheses.whiterose.ac.uk/12059/.

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The schema is the key artefact used to describe the structure of a relational database, specifying how data will be stored and the integrity constraints used to ensure it is valid. It is therefore surprising that to date little work has addressed the problem of schema testing, which aims to identify mistakes in the schema early in software development. Failure to do so may lead to critical faults, which may cause data loss or degradation of data quality, remaining undetected until later when they will prove much more costly to fix. This thesis explores how mutation analysis – a technique commo

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2

Wu, Yongjian. "An empirical study of the use of conceptual models for mutation testing of database application programs." Click to view the E-thesis via HKUTO, 2006. http://sunzi.lib.hku.hk/hkuto/record/B37599434.

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Wu, Yongjian, and 吳勇堅. "An empirical study of the use of conceptual models for mutation testing of database application programs." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2006. http://hub.hku.hk/bib/B37599434.

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4

Kamanu, Frederick Kinyua. "Computational Verification of Published Human Mutations." Thesis, University of the Western Cape, 2008. http://etd.uwc.ac.za/index.php?module=etd&action=viewtitle&id=gen8Srv25Nme4_2906_1269551415.

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<p>The completion of the Human Genome Project, a remarkable feat by any measure, has provided over three billion bases of reference nucleotides for comparative studies. The next, and perhaps more challenging step is to analyse sequence variation and relate this information to important phenotypes. Most human sequence variations are characterized by structural complexity and, are hence, associated with abnormal functional dynamics. This thesis covers the assembly of a computational platform for verifying these variations, based on accurate, published, experimental data.</p>

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5

Sevinc, Ender. "Genetic Algorithms For Distributed Database Design And Distributed Database Query Optimization." Phd thesis, METU, 2009. http://etd.lib.metu.edu.tr/upload/3/12611194/index.pdf.

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The increasing performance of computers, reduced prices and ability to connect systems with low cost gigabit ethernet LAN and ATM WAN networks make distributed database systems an attractive research area. However, the complexity of distributed database query optimization is still a limiting factor. Optimal techniques, such as dynamic programming, used in centralized database query optimization are not feasible because of the increased problem size. The recently developed genetic algorithm (GA) based optimization techniques presents a promising alternative. We compared the best known GA with

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6

Nowacki, Piotr Marek. "Design, development, and deployment of a locus specific mutation database : the PAHdb example." Thesis, National Library of Canada = Bibliothèque nationale du Canada, 1998. http://www.collectionscanada.ca/obj/s4/f2/dsk1/tape10/PQDD_0004/MQ44234.pdf.

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7

McCormick, II Donald W. "Towards A Sufficient Set of Mutation Operators for Structured Query Language (SQL)." Thesis, Virginia Tech, 2010. http://hdl.handle.net/10919/32526.

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Test suites for database applications depend on adequate test data and real-world test faults for success. An automated tool is available that quantifies test data coverage for database queries written in SQL. An automated tool is also available that mimics real-world faults by mutating SQL, however tests have revealed that these simulated faults do not completely represent real-world faults. This paper demonstrates how half of the mutation operators used by the SQL mutation tool in real-world test suites generated significantly lower detection scores than those from research test suites. Thre

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8

Kang, Ce. "Investigating the Genetic Basis of the Spastic-Ataxias using Next Generation Sequencing and a Mutation Database." Thesis, The University of Sydney, 2021. https://hdl.handle.net/2123/27330.

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Introduction: “Spastic-ataxias” are a group of conditions that are characterised by spasticity as well as ataxia. They are usually hereditary in nature, and demonstrate widespread genetic heterogeneity and phenotypical variance. In this thesis, I seek to draw meaningful genotype-phenotype relationship in two disorders – Hereditary Cerebellar Ataxia (HCA) and Hereditary Spastic Paraplegia (HSP). Method: We undertook separate studies for each disorder. The first study is a retrospective review of HCA cases referred to the Neurogenetics Clinic at Royal North Shore Hospital over a 15-year perio

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9

Venkatesan, Lavanya. "Identifying and Tracking the Evolution of Mutations in the SARS-CoV-2 Virus." Thesis, Virginia Tech, 2021. http://hdl.handle.net/10919/103939.

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SARS-CoV-2 is caused by a pathogenic and highly transmissible beta coronavirus leading to severe infections in immuno-compromised individuals. This study first evaluates the primers used in the Reverse Transcription Polymerase Chain Reaction (RT-PCR) to detect SARS-CoV-2 by understanding how mutations might affect the primer efficiency with the SARS-CoV-2 sequences. Mutations on the Spike protein of SARS-CoV-2 are the most important as the spike protein mediates the viral entry into host cells. This study tracks the course of mutations on the spike protein by focusing on the haplogroups of th

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10

MOROSINI, SARA. "Integrated genetic diagnosis of neurofibromatosis type 1 (NF1) and molecular characterization of one case of compound heterozygosity." Doctoral thesis, Università degli Studi di Milano-Bicocca, 2014. http://hdl.handle.net/10281/83314.

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Genetic analysis of Neurofibromatosis type 1 (NF1) may facilitate the identification of patients in early phases of the disease. Here, we present an overview of our diagnostic research spanning the last eleven years, with a focus on the description of 225 NF1 mutations, 126 of which are novel, found in a series of 605 patients (513 unrelated) in Italy. Between 2003 and 2013, 443 unrelated patients were profiled by DHPLC analysis of 60 amplicons derived from genomic NF1 DNA and subsequent sequencing of heterozygotic PCR products. In addition, a subset of patients was studied by MLPA to identify

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11

Fischer, Liane, Caroline Wilde, Torsten Schöneberg, and Ines Liebscher. "Functional relevance of naturally occurring mutations in adhesion G protein-coupled receptor ADGRD1 (GPR133)." Universitätsbibliothek Leipzig, 2016. http://nbn-resolving.de/urn:nbn:de:bsz:15-qucosa-208803.

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Background: A large number of human inherited and acquired diseases and phenotypes are caused by mutations in G protein-coupled receptors (GPCR). Genome-wide association studies (GWAS) have shown that variations in the ADGRD1 (GPR133) locus are linked with differences in metabolism, human height and heart frequency. ADGRD1 is a Gs protein-coupled receptor belonging to the class of adhesion GPCRs. Results: Analysis of more than 1000 sequenced human genomes revealed approximately 9000 single nucleotide polymorphisms (SNPs) in the human ADGRD1 as listed in public data bases. Approximately 2.4 % o

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12

Connell, Jasmine. "Multigenerational mtGenome analysis for identification of historical military remains." Thesis, Queensland University of Technology, 2021. https://eprints.qut.edu.au/210165/1/Jasmine_Connell_Thesis.pdf.

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Using the unique Norfolk Island pedigree, this dissertation focused on extended pedigree analysis to evaluate the suitability of whole mitochondrial genome analysis for historical casework, and to provide one of the first mutation rate estimates for the entire mitochondrial genome. This research also provided a mitochondrial DNA control region database representing World War II-era Australian soldiers that has been used by the Australian Defence Force for human identification. It is expected that this work will help to reduce the incorrect identification of military remains and will assist the

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13

BARILARO, MARIA ROSA. "Polimorfismi del DNA mitocondriale: implicazioni analitiche e forensi." Doctoral thesis, Università degli Studi di Roma "Tor Vergata", 2010. http://hdl.handle.net/2108/1390.

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La tipizzazione del DNA mitocondriale (mtDNA) ha trovato un’importante nicchia nell’analisi forense dei campioni degradati, dei capelli ed al verificarsi dei disastri di massa. Attualmente la maggior parte dei laboratori forensi, che si occupano di mtDNA, si focalizzano sull’informazione che deriva dal sequenziamento delle due regioni ipervariabili (HVI ed HVII), dell’estensione di oltre 600 paia di basi, poste all’interno della Regione di Controllo. Una limitazione dell’analisi del DNA mitocondriale è rappresentata dal basso potere di discriminazione associato ai tipi comuni HVI/HVII: ad esem

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14

Leyland, Nicola Ruth. "Characterisation of null mutations in genes encoding components of antioxidant metabolism in Arabidopsis thaliana." Thesis, University of East Anglia, 2002. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.268507.

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15

Gardner, Allison. "Characterising and predicting amyloid mutations in proteins." Thesis, University of Manchester, 2016. https://www.research.manchester.ac.uk/portal/en/theses/characterising-and-predicting-amyloid-mutations-in-proteins(5fb5b725-ac9e-499b-81ee-f9ce7cbcb19e).html.

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A database, AmyProt, was developed that collated details of 32 human amyloid proteins associated with disease and 488 associated mutations and polymorphisms, of which 316 are classified as amyloid. A detailed profile of the mutations was developed in terms of location within domains and secondary structures of the proteins and functional effects of the mutations. The data was used to test the hypothesis that mutations enhance amyloidosis in human amyloid proteins have distinctive characteristics, in terms of specific location within proteins and physico-chemical characteristics, which differen

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16

Jansson, Bertheussen Nina, and Lina Welander. "Databas i Microsoft Access för forskningsstudie angående ärftlig mutation i genen TP53." Thesis, KTH, Skolan för teknik och hälsa (STH), 2016. http://urn.kb.se/resolve?urn=urn:nbn:se:kth:diva-190874.

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I det här projektet har en databas byggts till ett nationellt forskningsprojekt angående nedärvda mutationer i genen TP53. Forskningsprojektets syfte är att få en större förståelse för mutationer i TP53 och dess effekt på den ökade förekomster av cancersjukdomar hos personer med den här mutationen. Eftersom det inom forskningsprojektet kommer samlas ihop mycket information som behöver lagras på ett överskådligt sätt finns ett behov av en användarvänlig databas som uppfyller deras krav. Målet med det här projektet var att bygga en databas i programmet Microsoft Access för att användas i det här

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17

Toledo, Ludmila Irineu. "MutShrink: um método de redução de banco de dados de teste baseado em mutação." Universidade Federal de Goiás, 2017. http://repositorio.bc.ufg.br/tede/handle/tede/7737.

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Submitted by JÚLIO HEBER SILVA (julioheber@yahoo.com.br) on 2017-09-06T18:11:43Z No. of bitstreams: 2 Dissertação - Ludmila Irineu Toledo - 2017.pdf: 1781052 bytes, checksum: 809a5a8972f14af9bc5bd3cc2eb37f80 (MD5) license_rdf: 0 bytes, checksum: d41d8cd98f00b204e9800998ecf8427e (MD5)<br>Approved for entry into archive by Luciana Ferreira (lucgeral@gmail.com) on 2017-09-15T15:34:25Z (GMT) No. of bitstreams: 2 Dissertação - Ludmila Irineu Toledo - 2017.pdf: 1781052 bytes, checksum: 809a5a8972f14af9bc5bd3cc2eb37f80 (MD5) license_rdf: 0 bytes, checksum: d41d8cd98f00b204e9800998ecf8427e (MD5)<br>Ma

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18

Rallapalli, P. M. "Interactive locus-specific databases and evolutionary aspects of the mutations in coagulation proteins." Thesis, University College London (University of London), 2014. http://discovery.ucl.ac.uk/1458877/.

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Blood coagulation occurs through a cascade of enzymes and cofactors that produces a fibrin clot, while otherwise maintaining haemostasis. The 11 human coagulation factors (FG, FII-FXIII) are associated with thousands of mutations. Variations caused by these mutations are the basis for evolutionary consequences and several of these mutations are also associated with clinically diagnosable bleeding disorders. Trailing the success of sequencing and diagnostic methods, increasing numbers of mutations are being compiled in order to present a more detailed patient-specific description of the disease

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19

Romanet, Pauline. "Etiologies héréditaires et somatiques des adénomes hypophysaires : étude du gène Men1 et du locus Gnas." Thesis, Aix-Marseille, 2018. http://www.theses.fr/2018AIXM0278/document.

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La Néoplasie Endocrinienne Multiple de type 1 (NEM1) est une maladie génétique qui associe hyperparathyroïdie primaire, tumeurs neuroendocrines digestives et adénomes hypophysaires. Elle est due à des mutations non récurrentes du gène MEN1, parfois difficile à classer. Nous avons rassemblé et analysé les données cliniques et génétiques de 1676 patients français porteurs d’une variation de MEN1 des 4 laboratoires experts du groupe TENGEN. De ce travail, nous avons alimenté une base de données de variants (UMD MEN1) et établir le profil mutationnel de MEN1 en France. Dans une seconde partie, nou

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20

Lopes, Andreia Sofia dos Santos. "Genetic basis of congenital Erythrocytosis: search for new mutations and associated genes and update of online databases." Master's thesis, Universidade de Aveiro, 2017. http://hdl.handle.net/10773/22704.

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Mestrado em Bioquímica - Bioquímica Clínica<br>Eritrocitose Congénita (EC) designa um grupo de patologias que podem ser primárias ou secundárias, sendo classificadas com base nos níveis de eritropoietina (EPO). A EC primária, devida a alterações nos percursores eritroides, é causada por alterações no recetor da eritropoietina (EpoR) devido a mutações nos genes EPOR e SH2B3. O EpoR fica permanentemente ativado, o que leva à diminuição dos níveis de EPO. A EC secundária pode ser causada por alterações de componentes na via de sensibilização ao oxigénio, devido a mutações nos genes VHL, EGLN1 e E

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21

Dúbrava, Juraj Ondrej. "Interaktivní databáze pro úschovu a údržbu biologických dat." Master's thesis, Vysoké učení technické v Brně. Fakulta informačních technologií, 2021. http://www.nusl.cz/ntk/nusl-445536.

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Cieľom tejto práce je vytvorenie novej databázy dát pre proteínovú stabilitu, ktorá bude udržiavať a poskytovať experimentálne dáta. Výsledkom práce je databáza FireProtDB, ktorá poskytuje manuálne overené experimentálne dáta z dostupných zdrojov a implementuje grafické užívateľské rozhranie, ktoré poskytuje dôležité informácie o dátach spoločne s možnosťou vyhľadávania umožňujúcim vytvárať dotazy na mieru a cieliacim na užívateľov, ktorí hľadajú dáta pre vytváranie dátových sád pre nástroje využívajúce strojové učenie.

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22

Oliveros, Marcia Perez Resende. ""Prevalência e covariação de mutações relacionadas à resistência aos inibidores de protease no subtipo F do HIV-1"." Universidade de São Paulo, 2005. http://www.teses.usp.br/teses/disponiveis/5/5160/tde-19102005-105311/.

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Cada subtipo de HIV-1 tem um padrão mutacional próprio. Dados sobre mutações de resistência aos antiretrovirais foram obtidos com o subtipo B, primeiro em prevalência no Brasil. O segundo em algumas regiões é o subtipo F. Foram analisados padrões mutacionais em seqüências brasileiras de protease do subtipo F e levantou as seqüências deste subtipo disponíveis na base de dados de Stanford. A análise de dois grupos de seqüências (pacientes não tratados e tratados com inibidores de protease) mostrou 19 mutações associadas ao tratamento comuns ao subtipo B e 17 duplas de mutações associadas ao trat

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23

Pinard, Amélie. "Le syndrome de Marfan et pathologies associées : identification de nouveaux gènes impliqués dans la bicuspidie de la valve aortique." Thesis, Aix-Marseille, 2016. http://www.theses.fr/2016AIXM5022.

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Le syndrome de Marfan (MFS) est une maladie génétique rare. Les signes cliniques sont principalement squelettiques, oculaires et cardiovasculaires. Le premier gène identifié est FBN1. Une LSDB UMD créée en 1995 a permis de colliger les mutations identifiées chez les patients. D’autres gènes ont été identifiés comme causant des syndromes apparentés : FBN2, TGFBR1, TGFBR2, ACTA2, SMAD3, MYH11 et MYLK. Ma thèse avait pour but de mettre à jour ces différentes bases et de créer celles des nouveaux gènes. Les techniques de séquençage nouvelle génération dans la pratique clinique amènent des médecins

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24

Al, Hawajri Abd Al Nasser. "Etude du polymorphisme et des mutations associées à la résistance dans les gènes codant la Protéase, la Reverse Transcriptase et la gp-41 du virus HIV-1 chez les patients naîfs et multitraités de Seine Saint-Denis et à partir des données d'une database internationale : différences entre les sous-types B et non -B." Paris 13, 2005. http://www.theses.fr/2005PA132036.

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25

Khawaja, Anas Ahmad. "Studie rozmanitosti HCV IRES: propojení experimentálního přístupu s přípravou a hodnocením rozsáhlé databáze mutací." Doctoral thesis, 2016. http://www.nusl.cz/ntk/nusl-351519.

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Translation initiation in the hepatitis C virus (HCV) occurs through a cap- independent mechanism that involves an internal ribosome entry site (IRES) capable of interaction with and utilization of the eukaryotic translational machinery. We focused on the structural configuration of the different HCV-IRES domains and the impact of IRES primary sequence variations on secondary structure conservation and function. For this purpose we introduced into our laboratory, methods such as denaturing gradient and temperature gradient gel electrophoresis for screening the degree of heterogeneity and total

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26

Mayne, Christopher G. "BAFF-R mutation : a novel contributor to systemic autoimmunity /." 2008. http://www.library.wisc.edu/databases/connect/dissertations.html.

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27

Amack, Jeffrey D. "Development and characterization of a cell culture model of the myotonic dystrophy trinucleotide (CTG) repeat expansion mutation /." 2002. http://www.library.wisc.edu/databases/connect/dissertations.html.

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28

Gottwald, Jennifer Rose. "Mutational analysis of proteins involved in phloem transport in Arabidopsis." 2000. http://www.library.wisc.edu/databases/connect/dissertations.html.

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29

Bua, Entela A. "The role of MTDNA deletion mutations, electron transport system abnormalities and calorie restriction on sarcopenia." 2004. http://www.library.wisc.edu/databases/connect/dissertations.html.

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30

Vega, Amanda L. "Arrhythmia mutations in the cardiac inward rectifying potassium channel Kir2.1 (KCNJ2) : mechanisms for molecular and cellular phenotypes /." 2008. http://www.library.wisc.edu/databases/connect/dissertations.html.

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31

Muangprom, Amorntip. "A novel dwarfing mutation in a "Green Revolution" gene in Brassica rapa : its role in the gibberellin pathway and its potential use in agriculture /." 2004. http://www.library.wisc.edu/databases/connect/dissertations.html.

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32

Wanagat, Jonathan. "The role of mitochondrial DNA deletion mutations in the pathogenesis of aging : studies in rodent heart and skeletal muscle /." 2000. http://www.library.wisc.edu/databases/connect/dissertations.html.

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33

Ye, Bin. "Structure-function of the cardiac sodium channel (SCN5A/Nav1.5) - the common background sequence and the effects of naturally occuring (pathogenic and non-pathogenic) and designed mutations /." 2002. http://www.library.wisc.edu/databases/connect/dissertations.html.

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