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Dissertations / Theses on the topic 'Single nucleotide polymorphism array'

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Published: 4 June 2021

Last updated: 4 February 2022

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1

Stanczak, Krzysztof M. "Detection of genomic deletions by single-nucleotide polymorphism array comparative genomic hybridization." Diss., Restricted to subscribing institutions, 2007. http://proquest.umi.com/pqdweb?did=1320950331&sid=1&Fmt=2&clientId=1564&RQT=309&VName=PQD.

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Silva, Fernanda Borges da. "Uso do Single Nucleotide Polymorphism Array (SNP-A) na investigação de alterações citogenéticas em pacientes com síndromes mielodisplásicas." Universidade de São Paulo, 2016. http://www.teses.usp.br/teses/disponiveis/17/17154/tde-29032017-164341/.

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As síndromes mielodisplásicas (SMD) constituem um grupo heterogêneo de doenças hematológicas de origem clonal, caracterizado por hematopoese ineficaz, citopenia e risco de evolução para leucemia mieloide aguda (LMA). As anormalidades citogenéticas adquiridas são marcadores prognósticos bem estabelecidos em SMD. No entanto, a técnica de citogenética metafásica apresenta limitações, incluindo baixa resolução e necessidade de divisão celular, sendo que defeitos cromossômicos podem não ser detectados. Tecnologias baseadas em microarranjo (array) de DNA, como o Single Nucleotide Polymorphism Array

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Ruppelt, Theresa. "Single nucleotide polymorphism array analysis in copy number variant detection: assessment of its feasibility in the diagnostic setting." Master's thesis, University of Cape Town, 2016. http://hdl.handle.net/11427/23720.

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Intellectual disability/developmental delay (ID/DD) is a significant problem in child health affecting 2 to 3% of the population worldwide. While the underlying aetiology of ID/DD in a large proportion (about 50%) of these patients is unknown, 15 to 20% of the internationally reported cases detected using microarray technologies are due to copy number variants (CNVs), whereas only 3 to 5% of ID/DD can be identified with conventional cytogenetics. The Affymetrix® Cytoscan™ High Density (HD) Array (Affymetrix, Santa Clara, CA) containing over 2.4 million markers for copy number (CN) was used to

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Quilez, Oliete Javier. "Application of genome-wide single-nucleotide polymorphism arrays to understanding dog disease and evolution." Doctoral thesis, Universitat Autònoma de Barcelona, 2012. http://hdl.handle.net/10803/98413.

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El descobriment d’un gran ventall de SNPs arrel dels projectes de seqüenciació de genomes, juntament amb les ràpides millores en el seu genotipatge a gran escala, van permetre el desenvolupament en moltes espècies animals de xips d’alta densitat de SNPs distribuïts pel genoma. Aquesta tesi presenta dos exemples de l’aplicació dels xips de SNPs per tal d’entendre malaltia i evolució en el gos, la història evolutiva del qual el converteix en un model animal apropiat per al mapatge de caràcters i en un fascinant cas de selecció artificial. En el primer exemple, motivats pel fet que només una ce

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5

Potluri, Keerti. "Improving DNA quality using FFPE tissues for Array Comparative Genomic Hybridization to find Single Nucleotide Polymorphisms (SNPs) in Melanoma." Wright State University / OhioLINK, 2015. http://rave.ohiolink.edu/etdc/view?acc_num=wright1438267267.

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6

Winchester, Laura. "Identification of candidate disease genes in common and rare disorders using copy number variant detection from single nucleotide polymorphism arrays." Thesis, University of Oxford, 2010. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.542993.

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7

Yu, Xuesong. "Statistical methods for analyzing genomic data with consideration of spatial structures /." Thesis, Connect to this title online; UW restricted, 2007. http://hdl.handle.net/1773/9553.

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8

Wong, Chi-wai. "High resolution mapping of loss of heterozygosity and chromosomal aberrations using oligonucleotide single nucleotide polymorphism genotyping arrays in colorectal adenoma to carcinoma progression." Click to view the E-thesis via HKUTO, 2006. http://sunzi.lib.hku.hk/hkuto/record/B3871923X.

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9

Ståhl, Patrik L. "Methods for Analyzing Genomes." Doctoral thesis, KTH, Genteknologi, 2010. http://urn.kb.se/resolve?urn=urn:nbn:se:kth:diva-12407.

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The human genome reference sequence has given us a two‐dimensional blueprint of our inherited code of life, but we need to employ modern‐day technology to expand our knowledge into a third dimension. Inter‐individual and intra‐individual variation has been shown to be larger than anticipated, and the mode of genetic regulation more complex. Therefore, the methods that were once used to explain our fundamental constitution are now used to decipher our differences. Over the past four years, throughput from DNA‐sequencing platforms has increased a thousand‐fold, bearing evidence of a rapid develo

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10

Norlén, Olov. "Small Intestinal Neuroendocrine Tumor : A Rare Malignancy with Favorable Outcome." Doctoral thesis, Uppsala universitet, Endokrinkirurgi, 2013. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-185071.

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Small intestinal neuroendocrine tumor (SI-NET) is the most common small bowel tumor in Europe and USA, with an annual incidence of around 0.3-1.3/100000 persons. SI-NETs are the most common type of gastroenteropancreatic NETs (GEP-NETs), and they are known for their ability to produce hormones such as tachykinins and serotonin, as well as for their favorable long-term prognosis in comparison to gastrointestinal adenocarcinoma. The overall aim of the thesis was to investigate unknown or unclear aspects of SI-NET disease, in connection with prognosis, treatment and follow-up. Paper I confirmed s

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11

Dubois, Julie. "Syndromes myélodysplasiques de novo et secondaires à un traitement anti-cancéreux : recherche de marqueurs génétiques de susceptibilité individuelle." Thesis, Bordeaux 2, 2012. http://www.theses.fr/2012BOR21990/document.

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Les syndromes myélodysplasiques (SMD) sont des hémopathies myéloïdes clonales évoluant vers une leucémie aiguë (LA). Les SMD et LA secondaires, survenant après traitement par chimiothérapie et/ou radiothérapie, ont un pronostic très péjoratif. Cependant seule une partie des sujets exposés aux traitements cytotoxiques développent un SMD secondaire, ce qui suggère une composante génétique dans la susceptibilité individuelle au risque de développer un SMD secondaire. Les objectifs de ce travail ont été d’identifier des polymorphismes génétiques de type SNP (Single Nucleotide Polymorphism) signifi

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12

Hultin, Emilie. "Genetic Sequence Analysis by Microarray Technology." Doctoral thesis, Stockholm : School of Biotechnology, Royal Institute of Technology, 2007. http://urn.kb.se/resolve?urn=urn:nbn:se:kth:diva-4330.

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Lindroos, Katarina. "Accessing Genetic Variation by Microarray Technology." Doctoral thesis, Uppsala : Acta Universitatis Upsaliensis : Univ.-bibl. [distributör], 2002. http://publications.uu.se/theses/91-554-5251-5/.

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14

Rodgers, Jessica. "Functional characterisation of key residues in the photopigment melanopsin." Thesis, University of Oxford, 2016. https://ora.ox.ac.uk/objects/uuid:d1184150-9b61-4cc9-94ad-2cc13a3d21ce.

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Melanopsin (Opn4) is the opsin photopigment of intrinsically photosensitive retinal ganglion cells (ipRGCs). It has a conserved opsin structure and activation mechanism, yet demonstrates unusual functional properties that suggest it will possess unique structure-function relationships. The aim of this thesis was to characterise key OPN4 residues by examining the impact of non-synonymous mutations on melanopsin function. A genotype-driven screen of a chemically-mutagenized mouse archive led to the identification of a novel Opn4 mutant, S310A, located at a known opsin spectral tuning site. Actio

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Oussalah, Abderrahim. "Déterminants génétiques du métabolisme des monocarbones : approche gène candidat dans deux populations ambulatoires et étude d'association avec la maladie de Crohn." Thesis, Nancy 1, 2011. http://www.theses.fr/2011NAN10088/document.

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Des études d'associations pangénomiques ont démontré une relation entre le taux plasmatique de la vitamine B12 et le polymorphisme du gène FUT2 (fucosyltransferase 2). Dans des modèles expérimentaux, le statut sécréteur pour FUT2 a été impliqué dans la susceptibilité à l'infection par Helicobacter pylori (H. pylori). Nous avons évalué l'influence du polymorphisme FUT2 461 G>A sur les marqueurs du métabolisme des monocarbones dans deux populations ambulatoires en Europe et en Afrique de l'Ouest ainsi que la possible association entre l'infection par H. pylori et le polymorphisme de FUT2. Nou

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16

Yan, Guohua. "Linear clustering with application to single nucleotide polymorphism genotyping." Thesis, University of British Columbia, 2008. http://hdl.handle.net/2429/958.

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Single nucleotide polymorphisms (SNPs) have been increasingly popular for a wide range of genetic studies. A high-throughput genotyping technologies usually involves a statistical genotype calling algorithm. Most calling algorithms in the literature, using methods such as k-means and mixturemodels, rely on elliptical structures of the genotyping data; they may fail when the minor allele homozygous cluster is small or absent, or when the data have extreme tails or linear patterns. We propose an automatic genotype calling algorithm by further developing a linear grouping algorithm (Van Aelst et

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17

Mair, Colette. "Methods for demographic inference from single-nucleotide polymorphism data." Thesis, University of Glasgow, 2012. http://theses.gla.ac.uk/3781/.

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The distribution of the current human population is the result of many complex historical and prehistorical demographic events that have shaped variation in the human genome. Genomic dissimilarities between individuals from different geographical regions can potentially unveil something of these processes. The greatest differences lie between, and within, African populations and most research suggests the origin of modern humans lies within Africa. However, differing models have been proposed to model the evolutionary processes leading to humans inhabiting most of the world. This thesis develo

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18

Eulálio, Inês Mariana Cardoso. "Developmente of a CNVs detection method through qPCR." Master's thesis, Universidade de Aveiro, 2017. http://hdl.handle.net/10773/22507.

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Mestrado em Biotecnologia<br>Os copy number variations (CNVs) consistem em segmentos de DNA de uma kilobase ou mais, que se encontram num número variável de cópias, em comparação com um genoma de referência. A deteção de CNVs é convencionalmente realizada através de técnicas de citogenética, como fluorescence in situ hybridization e array comparative genomic hybridization, ou com base em PCR, como multiplex ligation-dependent probe amplification, SNP arrays ou deep sequencing. Porém, a evolução da técnica de PCR quantitativo em tempo real (qPCR) permitiu que fosse, actualmente, considerada o m

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19

Tran, Linda. "Single nucleotide polymorphism in BCRP and effects on flavopiridol transport." Connect to resource, 2008. http://hdl.handle.net/1811/32144.

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20

Pungliya, Manish S. "Single nucleotide polymorphism analysis in application to fine gene mapping." Digital WPI, 2001. https://digitalcommons.wpi.edu/etd-theses/642.

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Single nucleotide polymorphisms (SNPs) are single base variations among groups of individuals. In order to study their properties in fine gene mapping, I considered their occurrence as transitions and transversions. The aim of the study was to classify each polymorphism depending upon whether it was a transition or transversion and to calculate the proportions of transitions and transversions in the SNP data from the public databases. This ratio was found to be 2.35 for data from the Whitehead Institute for Genome Research database, 2.003 from the Genome Database, and 2.086 from the SNP Consor

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21

Jordan, Barbara M. (Barbara Marie) 1975. "Genome complexity reduction for genome-wide single nucleotide polymorphism analysis." Thesis, Massachusetts Institute of Technology, 2002. http://hdl.handle.net/1721.1/8319.

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Thesis (Ph. D.)--Massachusetts Institute of Technology, Dept. of Biology, 2002.<br>Vita.<br>Includes bibliographical references.<br>Millions of single nucleotide polymorphisms (SNPs) have been identified in the human genome, and more are cataloged every day. The challenge now is to use these SNPs to discover the genetic risk factors underlying common and complex diseases. Efficient, large-scale genotyping methods are one necessary component of this endeavor. Current SNP genotyping techniques all rely on an initial PCR amplification of each SNP locus. Individual or low-level multiplexed PCR rea

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Blanchard, Kimberly A. "Analysis of Single Nucleotide Polymorphism Panels for Bovine DNA Identification." DigitalCommons@USU, 2013. https://digitalcommons.usu.edu/etd/1712.

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Single nucleotide polymorphisms (SNPs) are single base-pair variations that exist between individuals. There are approximately a million or more SNPs located throughout the genome of each individual animal. Therefore, by taking advantage of these unique polymorphisms, SNPs can be used to resolve questions of unknown parentage in the livestock industry. Currently a panel of 88 SNPs, obtained from a panel of 121 SNPs originally created by USDA-MARC, is commercially available from Fluidigm®. The objective of this study was to determine whether the number of SNPs from the 88-SNP marker panel could

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23

Kouri, Drew P. "A Nonlinear Response Model for Single Nucleotide Polymorphism Detection Assays." Case Western Reserve University School of Graduate Studies / OhioLINK, 2008. http://rave.ohiolink.edu/etdc/view?acc_num=case1212598582.

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24

Ball, Rachel Jennifer. "A mass spectrometry based hybridisation assay for single nucleotide polymorphism analysis." Thesis, University of Southampton, 2005. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.417404.

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25

Breglio, Kimberly F. "An autophagy-related single nucleotide polymorphism in artemisinin-resistant Plasmodium falciparum." Thesis, University of Oxford, 2018. http://ora.ox.ac.uk/objects/uuid:e1e9eb78-cf58-473a-837e-25810db46fcf.

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Artemisinin-resistant Plasmodium falciparum parasites have been reported in the Greater Mekong Subregion since 2007. Artemisinin combination therapy (ACT) is the mainstay of antimalarial treatment and is responsible for decreases in malaria-related morbidity and mortality over the past fifteen years. The slowed parasite clearance rates following ACT indicates resistance to artemisinin derivatives. This resistance places increasing selective pressure for variants or traits that confer resistance to the partner drug used in combination and has led to the rapid failure of several partner drugs. W

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26

Raghavan, Manoj. "High-resolution genome-wide single nucleotide polymorphism mapping in acute myeloid leukaemia." Thesis, Queen Mary, University of London, 2008. http://qmro.qmul.ac.uk/xmlui/handle/123456789/1884.

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Investigation of the genetics of acute myeloid leukaemia (AML) has revealed the underlying basis of the disease and led to targets for therapy. High-resolution single nucleotide polymorphism (SNP) arrays detected regions of loss of heterozygosity and DNA copy number changes, augmenting the results of conventional cytogenetic analysis in AML. Fifteen out of 72 (20%) primary AML samples exhibited large regions of homozygosity that could not be accounted for by visible chromosomal abnormalities in the karyotype. Further analysis confirmed that these patterns were due to partial uniparental disomy

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27

Anthony, Tim. "Evaluating machine learning models for predicting glioma from single nucleotide polymorphism data." Thesis, Umeå universitet, Institutionen för fysik, 2020. http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-184849.

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Early detection of cancer is necessary to minimize mental and physical distress. Therefore, this report investigated the possibilities of using machine learning methods to detect glioma in an early stage. This by looking at genetic data from real patients. This data consists of more than 14 million genetic features called SNP:s, and is therefore considered highly dimensional. However, the question is if these genetic data can be used for prediction of glioma? The approach used was to first reduce the dimension by methods such as weighted cosine similarities, PCA, undercomplete autoencoder, t

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28

Koido, Kati. "Single-nucleotide polymorphism profiling of 22 candidate genes in mood and anxiety disorders /." Online version, 2005. http://dspace.utlib.ee/dspace/bitstream/10062/889/5/koido.pdf.

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29

Giannoulatou, Eleni. "Single nucleotide polymorphism and copy number variant genotyping for genome wide association studies." Thesis, University of Oxford, 2010. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.543550.

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30

Liu, Shuk Ming. "Single nucleotide polymorphism in human microsomal glutathione s-transferase gene and colorectal cancer /." View Abstract or Full-Text, 2003. http://library.ust.hk/cgi/db/thesis.pl?BIOL%202003%20LIU.

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Thesis (M. Phil.)--Hong Kong University of Science and Technology, 2003.<br>Includes bibliographical references (leaves 95-105). Also available in electronic version. Access restricted to campus users.

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31

Chan, Yuen Man. "Functional analysis of single nucleotide polymorphisms in the proximal promoter regions of the multidrug transporter genes MRP1/ABCC1 and MRP4/ABCC4." Thesis, Kingston, Ont. : [s.n.], 2007. http://hdl.handle.net/1974/730.

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32

Wong, Sze-yin Shirley. "Single nucleotide polymorphism in follicle stimulating hormone receptor and the development of endometrial carcinoma." Click to view the E-thesis via HKUTO, 2002. http://sunzi.lib.hku.hk/hkuto/record/B31971349.

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33

Wong, Sze-yin Shirley, and 黃思賢. "Single nucleotide polymorphism in follicle stimulating hormone receptor and the development of endometrial carcinoma." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2002. http://hub.hku.hk/bib/B31971349.

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34

Wong, Hoi-man Emily, and 黃凱敏. "Genome-wide association analyses on complex diseases: from single-nucleotide polymorphism to copy numbervariation." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2013. http://hub.hku.hk/bib/B50534099.

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Complex diseases, unlike Mendialian diseases, are often characterized by genetic heterogeneity and multifactorial inheritance, involving defects in genes from the same or multiple alternative pathways. Many congenital diseases and psychiatric disorders are complex diseases, and incur heavy health care burden on the society. With the advancement in high-throughput genotyping technologies and the availability of the human single nucleotide polymorphism (SNP) catalogue, genome-wide association study (GWAS) has been widely used to investigate the genetic component of complex diseases. Copy number

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35

Mercer, Heather Milliken. "The Distribution of Single Nucleotide Polymorphisms in Pyoderma Gangrenosum: Biomarker Discovery." Kent State University / OhioLINK, 2013. http://rave.ohiolink.edu/etdc/view?acc_num=kent1383769612.

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36

Ramdayal, Kavisha. "Incidence and Regulatory Implications of Single Nucleotide Polymorphisms among Established Ovarian Cancer Genes." Thesis, Online access, 2009. http://etd.uwc.ac.za/usrfiles/modules/etd/docs/etd_gen8Srv25Nme4_5111_1277754725.pdf.

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37

Lin, Kuan-chin. "Candidate Gene Expression and SNP Analyses of Toxin-Induced Dilated Cardiomyopathy in the Turkey(Meleagris gallopavo)." Thesis, Virginia Tech, 2006. http://hdl.handle.net/10919/42012.

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Dilated cardiomyopathy (DCM), a heart disease, affects many vertebrates including humans and poultry. The disease can be either idiopathic (IDCM) or toxin-induced. Idiopathic DCM often occurs without a consensus cause. Though genetic and other studies of IDCM are extensive, the specific etiology of toxin-induced is still unknown. Here, our objective was to compare the level of mRNA expression of two candidate genes including troponin T (cTnT) and phospholamban (PLN) using quantitative reverse transcription polymerase chain reaction (RT-PCR) in toxin-induced DCM affected and unaffected turkeys

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38

Jobs, Magnus. "Technology development for genome and polymorphism analysis /." Stockholm, 2003. http://diss.kib.ki.se/2003/91-7349-413-5/.

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39

Lu, Yang 1972. "High throughput study of the translational effect of human single nucleotide polymorphisms." Thesis, McGill University, 2008. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=116089.

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Introduction: As a part of the Gene Regulators in Disease project (GRID), this study aims to create a novel high throughput method to discover the genetic effect on gene translation, taking advantage of the rationale that efficiently translated mRNAs associate with multiple ribosomes, while less active ones with fewer or none.<br>Methods: Lymphoblastoid cell lines (LCLs) from 44 HapMap European individuals were used for polyribosomal fractionation and establishing the sample bank for the future study. The fractionated mRNA samples of 10 out of the 44 individuals were run on an Illumina GoldenG

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Kadioglu, Onat. "Determination Of Performance Parameters For Ahp Based Single Nucleotide Polymorphism (snp) Prioritization Approach On Alzheimers." Master's thesis, METU, 2011. http://etd.lib.metu.edu.tr/upload/12613775/index.pdf.

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GWAS mainly aim to identify variations associated with certain phenotypes or diseases. Recently the combined p-value approach is described as the next step after GWAS to map the significant SNPs to genes and pathways to evaluate SNP-gene-disease associations. Major bottleneck of standard GWAS approaches is the prioritization of statistically significant results. The connection between statistical analysis and biological relevance should be established to understand the underlying molecular mechanisms of diseases. There are few tools offered for SNP prioritization but these are mainly based on

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Naidu, Alecia Geraldine. "The development of a single nucleotide polymorphism database for forensic identification of specified physical traits." Thesis, University of the Western Cape, 2009. http://etd.uwc.ac.za/index.php?module=etd&action=viewtitle&id=gen8Srv25Nme4_9261_1297760101.

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<p>Many Single Nucleotide Polymorphisms (SNPs) found in coding or regulatory regions within the human genome lead to phenotypic differences that make prediction of physical appearance, based on genetic analysis, potentially useful in forensic investigations. Complex traits such as pigmentation can be predicted from the genome sequence, provided that genes with strong effects on the trait exist and are known. Phenotypic traits may also be associated with variations in gene expression due to the presence of SNPs in promoter regions. In this project, the identification of genes associated with th

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Meyer, Jodokus [Verfasser], and Alexander [Akademischer Betreuer] Mellmann. "Single-Nucleotide-Polymorphism-(SNP)-Analyse im Kerngenom der HUSEC-Kollektion / Jodokus Meyer ; Betreuer: Alexander Mellmann." Münster : Universitäts- und Landesbibliothek Münster, 2014. http://d-nb.info/1138284351/34.

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Fung, Kandace. "Detection of Sickle Cell Disease-associated Single Nucleotide Polymorphism Using a Graphene Field Effect Transistor." Scholarship @ Claremont, 2019. https://scholarship.claremont.edu/cmc_theses/2262.

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Sickle Cell Disease (SCD) is a hereditary monogenic disorder that affects millions of people worldwide and is associated with symptoms such as stroke, lethargy, chronic anemia, and increased mortality. SCD can be quickly detected and diagnosed using a simple blood test as an infant, but as of now, there is currently limited treatment to cure an individual of sickle cell disease. Recently, there have been several promising developments in CRISPR-Cas-associated gene-editing therapeutics; however, there have been limitations in gene-editing efficiency monitoring, which if improved, could be benef

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McCready, Jessica. "The Influence of a Single Nucleotide Polymorphism In The Matrix Metalloproteinase-1 Promoter on Glioma Biology." VCU Scholars Compass, 2006. http://scholarscompass.vcu.edu/etd/1123.

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Glioblastomas are an incurable type of brain tumor with a mean survival time of 9-12 months following diagnosis. One of the reasons for this poor prognosis is the ability of tumor cells to invade the surrounding normal brain tissue. Enzymes responsible for this invasive nature include the matrix metalloproteinase family. MMP-1 is a member of this family which has been well studied in many types of invasive tumors, with gliomas being an exception. We studied a single nucleotide polymorphism (SNP) in the MMP-1 promoter that may influence glioma biology. This SNP consists of the presence (2G) or

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Hayward, Laura E. "Identification of Functional Single Nucleotide Polymorphisms Associated with Breast Cancer Based on Chromatin Modifications." Scholarship @ Claremont, 2016. http://scholarship.claremont.edu/cmc_theses/1312.

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Breast cancer affects 1 in 8 women and can be deadly; yet when detected early enough it is often treatable. Thus, early detection of breast cancer is imperative to save lives. The success of early detection depends, in part, on being able to stratify risk. A new approach to determining risk involves identifying genetic variants that alter an individual’s risk for developing breast cancer. This thesis identified key functional candidates involved in breast cancer development, some of which have been verified by other studies. For a few of the functional candidates, further research needs to be

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Hrabik, Sarah A. "The Clinical Utility of a SNP Microarray in Patients with Epilepsy at a Tertiary Medical Center." University of Cincinnati / OhioLINK, 2013. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1368024881.

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47

Serao, Nick, Dianelys Gonzalez-Pena, Jonathan Beever, Dan Faulkner, Bruce Southey, and Sandra Rodriguez-Zas. "Single nucleotide polymorphisms and haplotypes associated with feed efficiency in beef cattle." BioMed Central, 2013. http://hdl.handle.net/10150/610391.

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BACKGROUND:General, breed- and diet-dependent associations between feed efficiency in beef cattle and single nucleotide polymorphisms (SNPs) or haplotypes were identified on a population of 1321 steers using a 50K SNP panel. Genomic associations with traditional two-step indicators of feed efficiency - residual feed intake (RFI), residual average daily gain (RADG), and residual intake gain (RIG) - were compared to associations with two complementary one-step indicators of feed efficiency: efficiency of intake (EI) and efficiency of gain (EG). Associations uncovered in a training data set were

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48

Maunders, Eve Alexandra. "The impact of a single nucleotide polymorphism in fusA1 on biofilm formation and virulence in Pseudomonas aeruginosa." Thesis, University of Cambridge, 2018. https://www.repository.cam.ac.uk/handle/1810/283002.

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Pseudomonas aeruginosa is an opportunistic human pathogen that is now the leading cause of morbidity and mortality in immunocompromised individuals. Those suffering with the genetic disease cystic fibrosis (CF) commonly encounter P. aeruginosa infections. P. aeruginosa infection can present itself as an acute infection, which is characterised by highly virulent, "free-swimming" bacteria, or as a chronic infection associated with the formation of surface-adhered bacterial communities known as biofilms. The labyrinth of interconnecting signalling networks has meant that the regulatory mechanisms

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Verhaven, Alexandra. "Fluorescent detection of DNA single nucleotide polymorphism by electric field assisted hybridization/melting of surface-immobilized oligonucleotides." Doctoral thesis, Universite Libre de Bruxelles, 2020. http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/314944.

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RésuméLes monocouches auto-assemblées d'ADN immobilisées sur électrodes d'or sont à la base de nombreux biocapteurs électrochimiques. Le contrôle du comportement interfacial de l'ADN par le biais d'un champ électrique est intéressant pour la détection de polymorphisme nucléotidique simple (PNS). La caractérisation in situ de monocouches d'ADN à l'échelle moléculaire est importante pour la fabrication de biocapteurs robustes, fiables et sensibles.La thèse porte sur la détection du PNS dans l'ADN par le biais d'hybridation/dénaturation induite par le champ électrique. La microscopie de fluoresce

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Cederblad, Lena. "Aspects on Head and neck Cancer with special reference to Salivary Gland Tumours and Single Nucleotide Polymorphism." Doctoral thesis, Uppsala universitet, Institutionen för immunologi, genetik och patologi, 2017. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-332192.

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A thesis on Head and neck cancer focusing on dose planning, salivary gland carcinoma and Single nucleotide polymorphism. For dose planning PET/CT (Positron emissions tomography/computed tomography) with tracer gave more precise information in comparison dose planning with CT. More primary tumours and metastases were found with the acetate tracer than with glucose tracer. Acetate PET/CT also showed larger volume of tumours attributed to lipid metabolism. In a retrospective study salivary gland cancer 5-year overall survival (OS) was 53 %. Salivary gland carcinoma consists of many histopathologi

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