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Дисертації з теми "Haplotype analysi"

Автор: Grafiati

Опубліковано: 11 березня 2023

Оновлено: 31 липня 2025

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1

Waldron, Edward. "Analysis of genetic association studies via haplotype clustering." Thesis, Imperial College London, 2007. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.497253.

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2

Tai, Bik-wah Diana, and 戴碧華. "Haplotype analysis of the family with Lynch syndrome." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2010. http://hub.hku.hk/bib/B45153772.

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3

Yatskiv, Yuriy Romanovich. "A Haplotype Analysis of an Archaic Denisovan Genome." University of Toledo Health Science Campus / OhioLINK, 2016. http://rave.ohiolink.edu/etdc/view?acc_num=mco1481145733356233.

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4

Zhao, Jiantao. "Combining Association and Haplotype Studies Towards the Improvement of Fruit Quality in Tomato Multiple haplotype-based analyses provide genetic and evolutionary insights into tomato fruit weight and composition Meta-analysis of genome-wide association studies provides insights into genetic control of tomato flavor Genomic designing for climate smart tomato." Thesis, Avignon, 2019. http://www.theses.fr/2019AVIG0712.

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Les consommateurs se plaignent de la qualité gustative des tomates depuis des décennies. Celle-ci est influencée principalement par les sucres, les acides et un ensemble de divers composés volatils. L’amélioration de la saveur de la tomate reste l’un des principaux défis à relever pour améliorer la qualité de la tomate et l’acceptabilité des consommateurs pour l’amélioration moderne des tomates. Le but principal de cette thèse était de disséquer le contrôle génétique de la saveur de la tomate en utilisant des SNP à haute densité et un ensemble divers de traits liés à la saveur, notamment les s

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5

Lächelt, Sandra [Verfasser]. "Funktionelle Analyse von ABCC2-Haplotypen / Sandra Lächelt." Kiel : Universitätsbibliothek Kiel, 2009. http://d-nb.info/1019869933/34.

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6

Hughes, David J. "Mutation characterisation and microsatellite haplotype analysis of the CFTR gene." Thesis, Queen's University Belfast, 1996. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.361278.

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7

Osman, Abdimajid. "Studies on warfarin treatment with emphasis on inter-individual variations and drug monitoring." Doctoral thesis, Linköping : Linköping University, 2007. http://www.bibl.liu.se/liupubl/disp/disp2007/med1000s.pdf.

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8

ROSA, Rogério dos Santos. "Associating genotype sequence properties to haplotype inference errors." Universidade Federal de Pernambuco, 2015. https://repositorio.ufpe.br/handle/123456789/16011.

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Submitted by Fabio Sobreira Campos da Costa (fabio.sobreira@ufpe.br) on 2016-03-16T15:28:47Z No. of bitstreams: 2 license_rdf: 1232 bytes, checksum: 66e71c371cc565284e70f40736c94386 (MD5) RogerioSantosRosa_Tese.pdf: 1740026 bytes, checksum: aa346f64c34419c4b83269ccb99ade6a (MD5)<br>Made available in DSpace on 2016-03-16T15:28:48Z (GMT). No. of bitstreams: 2 license_rdf: 1232 bytes, checksum: 66e71c371cc565284e70f40736c94386 (MD5) RogerioSantosRosa_Tese.pdf: 1740026 bytes, checksum: aa346f64c34419c4b83269ccb99ade6a (MD5) Previous issue date: 2015-03-12<br>Haplotype information has a cen

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9

Nettelblad, Carl. "Two Optimization Problems in Genetics : Multi-dimensional QTL Analysis and Haplotype Inference." Doctoral thesis, Uppsala universitet, Avdelningen för beräkningsvetenskap, 2012. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-180920.

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The existence of new technologies, implemented in efficient platforms and workflows has made massive genotyping available to all fields of biology and medicine. Genetic analyses are no longer dominated by experimental work in laboratories, but rather the interpretation of the resulting data. When billions of data points representing thousands of individuals are available, efficient computational tools are required. The focus of this thesis is on developing models, methods and implementations for such tools. The first theme of the thesis is multi-dimensional scans for quantitative trait loci (Q

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10

Neville, Catherine E. "The high resolution haplotype analysis and origin of the myotonic dystrophy mutation." Thesis, University of Ottawa (Canada), 1994. http://hdl.handle.net/10393/9857.

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The objective of this thesis was to determine the origin of the myotonic dystrophy (DM) mutation. I have used PCR-based assays of nine polymorphisms spanning a physical distance of 30 kb, within and immediately flanking the DM kinase gene, in order to examine patterns of allelic association with respect to the DM mutation. Four main haplotypes (A-D) were observed in the normal population using these nine markers at the DM locus. Significantly, DM is in complete association with haplotype A, the most common haplotype in the normal population. Our data suggest the presence of two founding chromo

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11

Dennis, Gary Jon. "A haplotype analysis of the angiotensin converting enzyme gene in ischaemic stroke." Thesis, University of Leicester, 2008. http://hdl.handle.net/2381/8737.

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Background: Epidemiological studies lend some support for a genetic predisposition to human stroke. There is a growing body of evidence to suggest a role for Angiotensin II (ANGII) in vascular disease. The levels of Angiotensin converting enzyme (ACE), which converts ANGI to ANGII, are known to be under a significant degree of genetic control. The D allele of the ACE I/D polymorphism is associated with higher serum ACE levels and this allele has also been associated with ischaemic stroke. Recent identification of numerous ACE single nucleotide polymorphisms has allowed for a more powerful case

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12

Belbin, Olivia. "Haplotype analysis of candidate genes in the amyloid cascade of Alzheimer's disease." Thesis, University of Nottingham, 2007. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.519432.

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13

Schouten, Michael T. "Modelling dependencies in genetic-marker data and its application to haplotype analysis." Thesis, University of Edinburgh, 2008. http://hdl.handle.net/1842/30729.

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The objective of this thesis is to develop new methods to reconstruct haplotypes from phase-unknown genotypes. The need for new methodologies is motivated by the increasing availability of high-resolution marker data for many species. Such markers typically exhibit Linkage Disequilibrium (LD). It is believed that reconstructed haplotypes for markers in high LD can be valuable for a variety of application areas in population genetics, including reconstructing population history and identifying genetic disease variants. The thesis begins with a critical assessment of the limitations of existing

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14

Floyd, James A. B. "Analysis of high-density SNP data from complex populations." Thesis, University of Edinburgh, 2011. http://hdl.handle.net/1842/4926.

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Data from a Croatian isolate population are analysed in a genome-wide association study (GWAS) for a variety of disease-related quantitative traits. A novel genomewide approach to analysing pedigree-based association data called GRAMMAR is utilised. One of the significant findings, for uric acid, is followed up in greater detail, and is replicated in another isolate population, from Orkney. The associated SNPs are located in the SLC2A9 gene, coding for a known glucose transporter, which leads to identification of SLC2A9 as a urate transporter too (Vitart et al., 2008). These SNPs are later imp

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15

Kamihara-Ting, Junne. "Studies at the hemochromatosis (HFE) locus : gene conversions, haplotypes, and association analysis." Thesis, Massachusetts Institute of Technology, 2005. http://hdl.handle.net/1721.1/34193.

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Thesis (Ph. D.)--Massachusetts Institute of Technology, Dept. of Biology, February 2006.<br>Includes bibliographical references.<br>Haplotype-based association studies offer an exciting potential methodology for the identification of genes that contribute to complex traits. There is thus great interest in understanding the biological forces that shape haplotypes. We have studied a well-characterized genetic locus surrounding the gene responsible for hereditary hemochromatosis (HFE) to investigate the impact of meiotic recombination events upon haplotype structure in this region. First we ident

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16

Lee, Seung-Hwan. "From Cmv1 to Ly49h: Molecular genetics, haplotype analysis and transgenesis to characterize innate immunity to cytomegalovirus." Thesis, University of Ottawa (Canada), 2004. http://hdl.handle.net/10393/29133.

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In mice, natural resistance to infection with murine cytomegalovirus (MCMV) is controlled by a dominant chromosome 6 locus, Cmv1, which is expressed at the level of Natural killer (NK) cells. To characterize the molecular mechanism underlying MCMV-resistance, our laboratory initiated a positional cloning approach for the identification of Cmv1, and localized the host resistance locus to a 0.35 cM genetic interval, corresponding to 1.6 Mb genomic DNA. This dissertation presents the results leading to the cloning and characterization of the Cmv1 gene. First, I constructed a transcription map for

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17

Zaboli, Ghazal. "Genes of the serotonergic system & susceptibility to psychiatric disorders : a gene-based haplotype analysis approach /." Stockholm, 2006. http://diss.kib.ki.se/2006/91-7140-729-4/.

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18

Coulonges, Cédric. "Analyses bioinformatiques dans le cadre de la génomique du SIDA." Phd thesis, Conservatoire national des arts et metiers - CNAM, 2011. http://tel.archives-ouvertes.fr/tel-00682191.

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Les technologies actuelles permettent d'explorer le génome entier pour y découvrir des variants génétiques associés aux maladies. Cela implique des outils bioinformatiques adaptés à l'interface de l'informatique, des statistiques et de la biologie. Ma thèse a porté sur l'exploitation bioinformatique des données génomiques issues de la cohorte GRIV du SIDA et du projet international IHAC (International HIV Acquisition Consortium). Posant les prémices de l'imputation, j'ai d'abord développé le logiciel SUBHAP. Notre équipe a montré que la région HLA était essentielle dans la non progression et l

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19

Bochernitsan, Aline Nemetz. "Mucopolissacaridose IVA : análise molecular e caracterização de haplótipos intragênicos no gene Galns." reponame:Biblioteca Digital de Teses e Dissertações da UFRGS, 2015. http://hdl.handle.net/10183/139801.

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Introdução: Mucopolissacaridose IVA é uma doença lisossômica, autossômica recessiva, causada pela deficiência da enzima N-acetilgalactosamina-6-sulfatase. É uma doença rara e a incidência varia de 1:76.000 a 1:640.000 recém-nascidos vivos. Até o momento 319 diferentes mutações causadoras da doença já foram identificadas, o que demonstra a ampla variabilidade genética. Objetivo: Caracterizar o genótipo de pacientes com MPS IVA, analisar 6 polimorfismos intragênicos e identificar os haplótipos presentes em nossos pacientes, através do estudo molecular do gene GALNS. Métodos: O estudo foi realiza

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20

Ferreira, Irma. "Haplotipe-analise van die fenielalanienhidroksilase-lokus in families met fenielketonurie / Irma Mohr." Thesis, Potchefstroom University for Christian Higher Education, 1989. http://hdl.handle.net/10394/7421.

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Cloning of a full-length human cDNA for phenylalanine hydroxylase (PAH) has led to major advances In the application of recombinant DNA techniques to the study of classical phenylketonuria (PKU) I a common autosomal recessive inborn error of amino acid metabolism (Ledley et al, 1985b). In order to assess the possible application of RFLP analysis for the identification of carriers of the trait among South African Caucasians, the frequencies of eight restriction site polymorphisms in a panel of random Caucasians were determined using a human PAH cDNA clone (obtained from S. L. C. Woo). The frequ

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21

PIROLA, YURI. "Combinatorial problems in studies of genetic variations: haplotyping and transcript analysis." Doctoral thesis, Università degli Studi di Milano-Bicocca, 2010. http://hdl.handle.net/10281/7891.

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After the first draft of the human genome has been published, the study of genetic variations has attracted increasing attention as a medium to map observable characteristics (phenotypic traits) of individuals to their underlying genes and biological processes. Unfortunately, observing and obtaining directly the genetic data of interest is a long and expensive operation, especially for large populations. Less informative sources of data are instead available at a fraction of cost. Computational methods are then called to recover the original data of interest from their less informative observa

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22

Menard, Katrina Louise. "Population genetic structure of Conophthorus ponderosae Hopkins (Coleoptera: Scolytidae) inferred from mitochondrial DNA haplotypes." Texas A&M University, 2006. http://hdl.handle.net/1969.1/4210.

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Pine cone beetles (Conophthorus sp.) are serious pests of many forest ecosystems since they burrow into pine cone tissues for egg deposition, causing the death of the seeds. Management of these beetles in natural and commercial stands of pines has been problematic due to lack of understanding about species limits and distribution. This study was conducted to investigate the phylogeography and phylogenetics of the genus. Several species represented by disjunct populations appear to be monophyletic including Conophthorus edulis, C. mexicanus, C. coniperda, and C. conicollens, whereas C. ponderos

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23

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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24

Wilson, Lyle. "Genetic analysis of the Cape Sand Frog, Tomopterna delalandii (Tschudi 1838)." University of the Western Cape, 2015. http://hdl.handle.net/11394/4866.

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Magister Scientiae (Biodiversity and Conservation Biology) - MSc (Biodiv and Cons Biol)<br>Tomopterna delalandii occurs throughout the west coast, Western Cape and south coast of South Africa. This range stretches across three distinct biogeographical assemblages. Based on historical records and the fact that Tomopterna is a genus of cryptic frogs, it is possible that there are unknown genetic variations within the species. To investigate whether population structure is present within T. delalandii a mitochondrial gene and nuclear gene, 16S and Tyrosinase, was sequenced from across the range.

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25

Genêt, Carine. "Caractérisation et analyse de régions du génome porcin portant des QTL de croissance, d'engraissement et de teneur en androsténone du gras." Montpellier 2, 2001. http://www.theses.fr/2001MON20060.

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26

RAVEANE, ALESSANDRO. "Human genetic history 2.0: Y-chromosome NGS in South American populations Genome-wide haplotype analysis in Italian populations." Doctoral thesis, Università degli studi di Pavia, 2018. http://hdl.handle.net/11571/1220606.

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27

Alburaki, Mohamed. "Analyse de la diversité moléculaire et morphométrique des populations d'abeilles de Syrie Apis mellifera syriaca : application à la conservation et à la sélection des populations d'abeilles." Paris 6, 2011. http://www.theses.fr/2011PA066199.

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Pour étudier la diversité génétique et morphométrique des populations d'abeille syrienne Apis mellifera syriaca, nous avons réalisé un échantillonnage de 1800 colonies d'abeilles couvrant trois pays différents: la Syrie, le Liban et l'Irak. Une abeille par colonie a été échantillonnée et conservée individuellement dans de l'alcool absolu. Ces abeilles ont été disséquées et les ailes conservées pour d'éventuelles analyses morphométriques. L'extraction des ADN totaux a été effectuée sur les thorax de ces abeilles. Chaque échantillon a ensuite été analysé pour deux marqueurs moléculaires: i) l'AD

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28

Russell, Kadijah Lashunte. "DNA Sequence and Haplotype Variation Analysis of Inflammatory Response Genes NLRX1, IL6, and IL8 in the Turkey (Meleagris gallopavo)." Thesis, Virginia Tech, 2019. http://hdl.handle.net/10919/99468.

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Genotype-phenotype analyses continue to be the primary goal for genome analyses in livestock and poultry breeding. Essential to accomplish this goal is the need to identify variation at the genomic level. To test the hypothesis that DNA sequence variations in inflammatory response genes are associated with phenotypic differences in the heritage turkey, the primary objective of this project was to search for single nucleotide polymorphisms (SNPs) in candidate inflammatory response genes. A minor objective was to develop a system for inducing inflammatory response in the turkey using a microbe-b

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29

Tell, Désirée von. "Welander distal myopathy : gene mapping and analysis of candidate genes /." Stockholm, 2004. http://diss.kib.ki.se/2003/91-7349-764-9.

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30

Su, Shu Yi. "Analysis of association studies and inference of haplotypic phase using hidden Markov models." Thesis, Imperial College London, 2009. http://hdl.handle.net/10044/1/5523.

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In this thesis I focus on the development and application of hidden Markov model (HMM) to solve problems in statistical genetics. Our method, based on a HMM, models the joint haplotype structure in the samples, where the parameters in the model are estimated by the Baum-Welch EM algorithm. Also, the model does not require pre-defined blocks or a sliding window scheme to define haplotype boundaries. Thus our method is computationally efficient and applicable for either the whole genome sequence or the candidate gene sequence. The first application of this model is for disease association testin

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31

Pountney, Angela. "Analysis of the population genetics and polybrominated diphenyl ether (PBDE) burdens of otters in England and Wales : with case studies of populations in South West England." Thesis, University of Exeter, 2008. http://hdl.handle.net/10036/110261.

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Otter populations declined drastically across many areas of England and Wales during the 1960s to 1980s. The main cause of this decline is thought to have been high concentrations of organic pollutants, in particular PCBs and dieldrin. Here we look at the health of the present day otter population, focussing on the numbers of otters, the genetic diversity of populations and investigating a possible new organic pollutant threat, polybrominated diphenyl ethers (PBDEs). A non-invasive spraint genotyping study of the otter population inhabiting the River Camel in Cornwall not only revealed that th

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32

Zhao, Wanying. "Genetic, Age, and Spatial Structure to Improve Management of Common Privet (Ligustrum vulgare)." The Ohio State University, 2012. http://rave.ohiolink.edu/etdc/view?acc_num=osu1325115045.

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33

CONGIU, RITA. "Analisi molecolare in pazienti italiani con sindrome di Lowe." Doctoral thesis, Università degli Studi di Cagliari, 2006. http://hdl.handle.net/11584/265881.

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The oculocerebrorenal syndrome of Lowe (OCRL, also called OCRL1) is a rare X-linked disorder characterized by major abnormalities of eyes, nervous system, and kidneys. The gene responsible for OCRL encodes an inositol polyphosphate-5-phosphatase. We performed the molecular analysis in 20 Italian patients and we detected the mutations in all the examined patients. Sixteen mutations out of twenty consisted of truncating mutations (frameshift, nonsense, splice site and genomic deletion), and four were missense mutations. The mutations were distributed in the second half of the gene as previousl

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34

Zhao, Zhiyu. "Robust and Efficient Algorithms for Protein 3-D Structure Alignment and Genome Sequence Comparison." ScholarWorks@UNO, 2008. http://scholarworks.uno.edu/td/851.

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Sequence analysis and structure analysis are two of the fundamental areas of bioinformatics research. This dissertation discusses, specifically, protein structure related problems including protein structure alignment and query, and genome sequence related problems including haplotype reconstruction and genome rearrangement. It first presents an algorithm for pairwise protein structure alignment that is tested with structures from the Protein Data Bank (PDB). In many cases it outperforms two other well-known algorithms, DaliLite and CE. The preliminary algorithm is a graph-theory based a

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35

Hathaway, Nicholas J. "A suite of computational tools to interrogate sequence data with local haplotype analysis within complex Plasmodium infections and other microbial mixtures." eScholarship@UMMS, 2018. https://escholarship.umassmed.edu/gsbs_diss/970.

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The rapid development of DNA sequencing technologies has opened up new avenues of research, including the investigation of population structure within infectious diseases (both within patient and between populations). In order to take advantage of these advances in technologies and the generation of new types of data, novel bioinformatics tools are needed that won’t succumb to artifacts introduced by the data generation, and thus provide accurate and precise results. To achieve this goal I have create several tools. First, SeekDeep, a pipeline for analyzing targeted amplicon sequencing dataset

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36

Brinza, Dumitru. "Discrete Algorithms for Analysis of Genotype Data." Digital Archive @ GSU, 2007. http://digitalarchive.gsu.edu/cs_diss/19.

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Accessibility of high-throughput genotyping technology makes possible genome-wide association studies for common complex diseases. When dealing with common diseases, it is necessary to search and analyze multiple independent causes resulted from interactions of multiple genes scattered over the entire genome. The optimization formulations for searching disease-associated risk/resistant factors and predicting disease susceptibility for given case-control study have been introduced. Several discrete methods for disease association search exploiting greedy strategy and topological properties of c

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37

MATTIOLI, CLAUDIA. "Association of HS1,2A polymorphism with several diseases and analysis of the haplotypes of the region surrounding the enhancer." Doctoral thesis, Università degli Studi di Roma "Tor Vergata", 2009. http://hdl.handle.net/2108/911.

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Nell’uomo due regioni regolative (3’RR-1 and 3’RR-2) situate a valle di ciascuno dei due geni alfa della regione costante della catena pesante delle immunoglobuline possiedono la capacità di stimolare l’attività dei promotori dei geni della catena pesante in una modalità tessuto-specifica e stadio-dipendente. Ciascuna regione regolativa umana possiede 3 elementi enhancer: HS3, HS1,2 and HS4. Fra questi, soltanto l’enhancer HS1,2 è risultato essere polimorfico. L’amplificazione selettiva dell’enhancer HS1,2A ha mostrato la presenza di 4 alleli (1; 2; 3; 4) aventi frequenze variabili nella popol

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38

Zhou, Xiaofei. "Bayesian Lasso for Detecting Rare Genetic Variants Associated with Common Diseases." The Ohio State University, 2019. http://rave.ohiolink.edu/etdc/view?acc_num=osu1563455460578675.

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39

McCaskie, Pamela Ann. "Multiple-imputation approaches to haplotypic analysis of population-based data with applications to cardiovascular disease." University of Western Australia. School of Population Health, 2008. http://theses.library.uwa.edu.au/adt-WU2008.0160.

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[Truncated abstract] This thesis investigates novel methods for the genetic association analysis of haplotype data in samples of unrelated individuals, and applies these methods to the analysis of coronary heart disease and related phenotypes. Determining the inheritance pattern of genetic variants in studies of unrelated individuals can be problematic because family members of the studied individuals are often not available. For the analysis of individual genetic loci, no problem arises because the unit of interest is the observed genotype. When the unit of interest is the linear combination

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40

Krex, Dietmar, Inke R. König, Andreas Ziegler, Hans K. Schackert, and Gabriele Schackert. "Extended Single Nucleotide Polymorphism and Haplotype Analysis of the elastin Gene in Caucasians with Intracranial Aneurysms Provides Evidence for Racially/Ethnically Based Differences." Saechsische Landesbibliothek- Staats- und Universitaetsbibliothek Dresden, 2014. http://nbn-resolving.de/urn:nbn:de:bsz:14-qucosa-135316.

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Background: There is growing evidence that genetic variants have an impact on the pathogenesis of intracranial aneurysm (IA). Recently, the genetic locus around the elastin gene (7q11) has been identified as linked to IA in a Japanese population. Our aim was to confirm these results in Caucasian populations. Methods: We conducted a case-control study in 120 Caucasian patients with IA and 172 controls to investigate 8 single nucleotide polymorphisms (SNPs) and various haplotypes within the elastin gene, which were frequently found and associated with the phenotype in the Japanese populations. R

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41

Krex, Dietmar, Inke R. König, Andreas Ziegler, Hans K. Schackert, and Gabriele Schackert. "Extended Single Nucleotide Polymorphism and Haplotype Analysis of the elastin Gene in Caucasians with Intracranial Aneurysms Provides Evidence for Racially/Ethnically Based Differences." Karger, 2004. https://tud.qucosa.de/id/qucosa%3A27638.

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Background: There is growing evidence that genetic variants have an impact on the pathogenesis of intracranial aneurysm (IA). Recently, the genetic locus around the elastin gene (7q11) has been identified as linked to IA in a Japanese population. Our aim was to confirm these results in Caucasian populations. Methods: We conducted a case-control study in 120 Caucasian patients with IA and 172 controls to investigate 8 single nucleotide polymorphisms (SNPs) and various haplotypes within the elastin gene, which were frequently found and associated with the phenotype in the Japanese populations. R

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42

Yang, Yizhen. "Analyse fonctionnelle et régulation du gène HFE impliqué dans l'Hémochromatose." Brest, 2011. http://www.theses.fr/2011BRES3204.

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L’hémochromatose héréditaire se caractérise par une hyperabsorption du fer conduisant à une accumulation progressive de fer dans l’organisme. La forme majoritaire, transmise selon un mode autosomique récessif, est liée à un défaut du gène HFE, dont le rôle dans le métabolisme du fer est encore mal compris, et est associée à un bas niveau de production d’hepcidine qui régule la ferroportine, l’exporteur de fer. La substitution c. 845G>A (p. C282Y) représente 85% des chromosomes des patients atteints d’hémochromatose, et le reste des chromosomes se compose de 39% de variant c. 187C>G (p. H

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43

Giovanni, Monica A. "A Family-Based Mapping Study of Autosomal Dominant Nonsyndromic Sensorineural Hearing Loss." University of Cincinnati / OhioLINK, 2007. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1179241536.

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44

Lembring, Maria. "Application of Mitochondrial DNA Analysis in Contemporary and Historical Samples." Doctoral thesis, Uppsala universitet, Genomik, 2013. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-209970.

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The mitochondrion is a tiny organelle that is the power supplier of the cell and vital to the functioning of the body organs. Additionally it contains a small circular genome of about 16 kb, present in many copies which makes the mitochondrial DNA more viable than nuclear DNA. Mitochondrial DNA is also maternally inherited and thus provides a direct link to maternal relatives. These two properties are of particular use for forensic samples, which only contain limited or degraded amounts of DNA, and for historical samples (ancient DNA). This thesis presents work on the mitochondrial DNA in the

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45

Jäger, Jan Christian [Verfasser], and Roland [Akademischer Betreuer] Martin. "Analyse der funktionellen Relevanz unterschiedlicher Interleukin-7 Rezeptor Alpha Haplotypen für die Ätiologie und Pathogenese der Multiplen Sklerose / Jan Christian Jäger. Betreuer: Roland Martin." Hamburg : Staats- und Universitätsbibliothek Hamburg, 2012. http://d-nb.info/1024772780/34.

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46

Fowler, Elizabeth Victoria. "Genetic analysis of the koala (Phascolarctos cinerus)." Thesis, Queensland University of Technology, 1999.

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47

Matos, Camacho Stephan. "Introduction to the Minimum Rainbow Subgraph problem." Doctoral thesis, Technische Universitaet Bergakademie Freiberg Universitaetsbibliothek "Georgius Agricola", 2012. http://nbn-resolving.de/urn:nbn:de:bsz:105-qucosa-85490.

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Arisen from the Pure Parsimony Haplotyping problem in the bioinformatics, we developed the Minimum Rainbow Subgraph problem (MRS problem): Given a graph $G$, whose edges are coloured with $p$ colours. Find a subgraph $F\\\\subseteq G$ of $G$ of minimum order and with $p$ edges such that each colour occurs exactly once. We proved that this problem is NP-hard, and even APX-hard. Furthermore, we stated upper and lower bounds on the order of such minimum rainbow subgraphs. Several polynomial-time approximation algorithms concerning their approximation ratio and complexity were discussed. Therefore

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48

Braz, Camila Urbano [UNESP]. "Detecção de QTL para maciez da carne em bovinos da raça Nelore." Universidade Estadual Paulista (UNESP), 2016. http://hdl.handle.net/11449/143485.

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Submitted by Camila Urbano Braz null (camila_urbano@yahoo.com.br) on 2016-08-29T20:11:34Z No. of bitstreams: 1 Tese_Camila_Urbano_Braz.pdf: 2227912 bytes, checksum: 63cf8f89ad9895f8c74ed5d890e0b2f9 (MD5)<br>Approved for entry into archive by Juliano Benedito Ferreira (julianoferreira@reitoria.unesp.br) on 2016-08-30T18:25:24Z (GMT) No. of bitstreams: 1 braz_cu_dr_jabo.pdf: 2227912 bytes, checksum: 63cf8f89ad9895f8c74ed5d890e0b2f9 (MD5)<br>Made available in DSpace on 2016-08-30T18:25:24Z (GMT). No. of bitstreams: 1 braz_cu_dr_jabo.pdf: 2227912 bytes, checksum: 63cf8f89ad9895f8c74ed5d890e0b2

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49

Morcillo, Suárez Carlos. "Analysis of genetic polymorphisms for statistical genomics: tools and applications." Doctoral thesis, Universitat Pompeu Fabra, 2011. http://hdl.handle.net/10803/78126.

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New approaches are needed to manage and analyze the enormous quantity of biological data generated by modern technologies. Existing solutions are often fragmented and uncoordinated and, thus, they require considerable bioinformatics skills from users. Three applications have been developed illustrating different strategies to help users without extensive IT knowledge to take maximum profit from their data. SNPator is an easy-to-use suite that integrates all the usual tools for genetic association studies: from initial quality control procedures to final statistical analysis. CHAVA is an inter

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50

Pecheniuk, Natalie Maria. "DNA analysis of common genetic variations which predispose to thrombophilia." Thesis, Queensland University of Technology, 2000.

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