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Tesi sul tema "Linkage disequilibrium"

Autore: Grafiati

Pubblicato: 4 giugno 2021

Ultima modifica: 25 luglio 2025

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1

Hernandez-Sanchez, Jules. "Gene mapping using linkage disequilibrium." Thesis, University of Edinburgh, 2002. http://hdl.handle.net/1842/14058.

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The power of QTL detection was studied both empirically and deterministically for several methods. TDT was more powerful than a linkage test, but less powerful than a pure association test. There were no great differences in power between TDTs. One of the TDTs was implemented in BLUP (Best Linear Unbiased Prediction) to study the effect of a candidate gene, the melanocortin 4- receptor (MC4R), on growth, appetite and fatness in pigs. We found significant effects on growth and fatness but not on appetite. TDT uses within families genetic variation. A novel parameter to estimate gene effects usi

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2

Veroneze, Renata. "Linkage disequilibrium and genomic selection in pigs." Universidade Federal de Viçosa, 2015. http://www.locus.ufv.br/handle/123456789/7597.

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Submitted by Marco Antônio de Ramos Chagas (mchagas@ufv.br) on 2016-05-03T09:22:23Z No. of bitstreams: 1 texto completo.pdf: 1632475 bytes, checksum: 40e16d694a3dcc12319c7792625a3a4b (MD5)<br>Made available in DSpace on 2016-05-03T09:22:23Z (GMT). No. of bitstreams: 1 texto completo.pdf: 1632475 bytes, checksum: 40e16d694a3dcc12319c7792625a3a4b (MD5) Previous issue date: 2015-09-25<br>Coordenação de Aperfeiçoamento de Pessoal de Nível Superior<br>A seleção genômica (SG) e associação genômica ampla (GWAS) são métodos que exploram o desequilíbrio de ligação (LD) entre marcadores e loci de

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3

Liu-Cordero, Shau Neen 1970. "Patterns of linkage disequilibrium in the human genome." Thesis, Massachusetts Institute of Technology, 2002. http://hdl.handle.net/1721.1/89344.

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Thesis (Ph.D.)--Massachusetts Institute of Technology, Dept. of Biology, 2002.<br>Includes bibliographical references.<br>Although enormous progress has occurred in the field of human genetics, the cloning of complex trait mutations remains a challenging and unresolved process. This continuing difficulty is responsible for an ever-increasing awareness of the phenomenon of linkage disequilibrium (LD). The principle behind LD is relatively simple. Over the lifetime of a population, the genetic markers that are adjacent to an ancestral mutation will recombine less often than more distant markers.

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4

Li, Na. "Modeling and inference for linkage disequilibrium and recombination /." Thesis, Connect to this title online; UW restricted, 2003. http://hdl.handle.net/1773/9532.

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5

Cummings, James Rowland Fraser. "Linkage Disequilibrium Mapping of Chromosome 19 on Crohn's Disease." Thesis, University of Oxford, 2009. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.531666.

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6

Lawrence, Robert W. "Characterizing patterns of linkage disequilibrium in the human genome." Thesis, University of Oxford, 2006. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.496992.

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7

Holloway, J. Kim. "Linkage disequilibrium and meiotic recombination in the human genome." Thesis, University of Leicester, 2005. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.426035.

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8

Dale, Kuys Ruth. "Linkage disequilibrium in the South African abalone, Haliotis midae." Thesis, Stellenbosch : Stellenbosch University, 2015. http://hdl.handle.net/10019.1/97991.

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Thesis (MSc)--Stellenbosch University, 2015.<br>ENGLISH ABSTRACT: Linkage disequilibrium (LD) is defined as the non-random association of alleles at two or more loci within a population. It is sensitive to a variety of locus-specific- and demographic factors, and can thus provide much insight into the micro-evolutionary factors that have shaped species of interest. It can also be exploited to identify the genomic regions determining complex traits of interest, which can then be applied as performance evaluation markers in marker-assisted selection (MAS). The South African abalone, Haliotis mid

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9

Sjölander, Anders. "Exploring linkage disequilibrium to date admixture using ancient DNA." Thesis, Uppsala universitet, Växtekologi och evolution, 2016. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-298198.

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Admixture studies based on contemporary DNA are well studied and results from these have shown to correlate well with other evidence. The study of using ancient DNA for determining admixture times is a less explored alternative for determining admixture. Admixture-induced Linkage Disequilibrium for Evolutionary Relationships (ALDER) is an established tool for determining admixture time from contemporary DNA. This project investigates the use of ALDER on simulated ancient DNA to determine if it can be used in actual ancient DNA studies. The results from this project suggest that ALDER can be us

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10

Webb, Adam J. "Meiotic recombination and linkage disequilibrium in the human genome." Thesis, University of Leicester, 2006. http://hdl.handle.net/2381/30369.

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Evidence is accumulating that recombination events in humans are not randomly distributed, but clustered into hotspots 1-2 kb wide. The Xp/Yp pseudoautosomal region (PAR1) is a male-specific recombination hot domain. The PAR1 gene PPP2R3B shows unusually high levels of nucleotide diversity. I have used LD studies in this region to reveal a dearth of historical recombination, arguing against earlier speculation that high diversity is driven by mutagenic recombination. Chimp LD studies, the existence of recombination hotspots inside LD blocks, and the observation of meiotic drive within a hotspo

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11

Zaffaroni, Daniela. "Mapping of skin cancer susceptibility loci in mice." Thesis, Open University, 2003. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.270016.

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12

Kim, Yunjung. "Analysis of Multilocus Linkage Disequilibrium Structure in the Human Genome." NCSU, 2008. http://www.lib.ncsu.edu/theses/available/etd-03132008-075346/.

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The International HapMap Project and high- throughput genotyping technology have generated millions of genome-wide marker data that can be used in genetic studies. Each marker can be analyzed separately. But analyzing multiple markers simultaneously through haplotypes has generated great interest recently. Understanding the haplotype structure in the human genome may provide important information on human evolutionary history and identification of genetic variants responsible for human complex diseases. Since the alleles at closely linked markers on a single chromosome are often in statistical

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13

Johnson, Randall. "Modeling of linkage disequilibrium in whole genome genetic association studies." Thesis, Paris, CNAM, 2014. http://www.theses.fr/2015CNAM0963/document.

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L’approche GWAS est un outil essentiel pour la découverte de gènes associés aux maladies, mais elle pose des problèmes de puissance statistique quand il est impossible d’échantillonner génétiquement des dizaines de milliers de sujets. Les résultats présentés ici—ALDsuite, un programme en utilisant une correction nouvelle et efficace pour le déséquilibre de liaison (DL) ancestrale de la population locale, en permettant l'utilisation de marqueurs denses dans le MALD, et la démonstration que la méthode simpleM fournit une correction optimale pour les comparaisons multiples dans le GW

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14

Thunga, Venkata Raghava Pavankumar. "Nucleotide diversity and Linkage disequilibrium in Norway spruce (Picea abies)." Thesis, Uppsala universitet, Institutionen för biologisk grundutbildning, 2014. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-221359.

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Pattern of Linkage Disequilibrium (LD) is a major factor largely determining the power of association mapping studies. Along with nucleotide diversities and DNA polymorphism, knowledge of patterns of LD along the genome needs to be to known to effectively design association mapping studies. In this study, patterns of nucleotide diversity, population structure, LD was estimated in Norway spruce (Picea abies). The data used for this were 23 nuclear loci sequenced in around 90 individuals originating from natural populations of Norway spruce throughout the current distribution range in Sweden and

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15

Petryshen, Tracey Lynn. "Localization of susceptibility genes involved in phonological coding dyslexia by family linkage and linkage disequilibrium studies." Thesis, National Library of Canada = Bibliothèque nationale du Canada, 2001. http://www.collectionscanada.ca/obj/s4/f2/dsk3/ftp04/NQ64882.pdf.

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16

Zhao, Honghua. "Use of linkage disequilibrium for quantitative trait loci mapping in livestock." [Ames, Iowa : Iowa State University], 2006.

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17

Lau, Winston Wai Shing. "Exploiting large scale computing for the analysis of genetic linkage disequilibrium." Thesis, University of Southampton, 2007. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.443042.

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18

Younkin, Samuel G. "The Linkage Disequilibrium LASSO for SNP Selection in Genetic Association Studies." Case Western Reserve University School of Graduate Studies / OhioLINK, 2011. http://rave.ohiolink.edu/etdc/view?acc_num=case1291219489.

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19

Dehman, Alia. "Spatial clustering of linkage disequilibrium blocks for genome-wide association studies." Thesis, Université Paris-Saclay (ComUE), 2015. http://www.theses.fr/2015SACLE013/document.

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Avec le développement récent des technologies de génotypage à haut débit, l'utilisation des études d'association pangénomiques (GWAS) est devenue très répandue dans la recherche génétique. Au moyen de criblage de grandes parties du génome, ces études visent à caractériser les facteurs génétiques impliqués dans le développement de maladies génétiques complexes. Les GWAS sont également basées sur l'existence de dépendances statistiques, appelées déséquilibre de liaison (DL), habituellement observées entre des loci qui sont proches dans l'ADN. Le DL est défini comme l'association non aléatoire d'

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20

WANG, TAO. "MODELING AND INFERRING QUANTITATIVE TRAIT LOCI USING LINKAGE DISEQUILIBRIUM IN NATURAL POPULATIONS." NCSU, 2001. http://www.lib.ncsu.edu/theses/available/etd-20011012-133341.

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<p>Quantitative trait loci (QTL) are those chromosome regions that contribute to variation of quantitative traits. Analysis of QTL is helpful for further study of molecular basis of the quantitative genetic variation. The discovery of highly abundant and dense polymorphic markers (e.g., single nucleotide polynorphisms, or SNPs) covering a whole genome provides an opportunity to localize QTL in a variety of populations. While classical linkage studies have a relatively limited resolution in QTL localization, the association mapping or linkage disequilibrium (LD) mapping approach can offer an al

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21

Li, Tao. "Linkage disequilibrium mapping of schizophrenia and related traits in a Chinese population." Thesis, King's College London (University of London), 2005. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.416371.

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22

Jia, Tianye. "Strategies and statistical methods for linkage disequilibrium-based mapping of complex traits." Thesis, University of Birmingham, 2012. http://etheses.bham.ac.uk//id/eprint/3292/.

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Nowadays, there are many statistical methods available for genetic association analyses with data various designs. However, it is usually ignored in these analyses that an analytical method must be appropriate for an experimental design from which data is collected. In addition, association study is a population-based analysis and, thus its inference is highly vulnerable to many population-oriented confounding factors. This thesis starts with a comprehensive survey and comparison of those methods commonly used in the literature of genetic association study in order to obtain insights into the

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23

Oudot, Tiphaine. "Recherche de gènes de prédisposition à une maladie à hérédité complexe : le psoriasis." Thesis, Evry-Val d'Essonne, 2009. http://www.theses.fr/2008EVRY0034/document.

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Le psoriasis est une maladie complexe inflammatoire et chronique de la peau, due à une forte composante génétique et des facteurs environnementaux. Seule l'implication d'un locus majeur de prédisposition au psoriasis au niveau du chromosome 6p21, nommé PSORS1, a été démontrée dans diverses populations lors d'études de liaison et d'association. Ce locus ne serait responsable que de 30 à 50% de la part génétique. L'objectif de ma thèse était donc d'identifier les autres facteurs génétiques, en particulier dans un échantillon d'une population d'origine française. Pour identifier les loci, une étu

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24

Lee, Yiu-fai. "Analysis for segmental sharing and linkage disequilibrium a genomewide association study on myopia /." Click to view the E-thesis via HKUTO, 2009. http://sunzi.lib.hku.hk/hkuto/record/B43912217.

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25

Adams, David R. "The low-density lipoprotein receptor as a model for studying candidate-locus linkage disequilibrium and allelic association /." Thesis, Connect to this title online; UW restricted, 1998. http://hdl.handle.net/1773/10852.

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26

Chapman, J. M. "Statistical methods for linkage disequilibrium mapping of disease susceptibility genes in candidate regions." Thesis, University of Cambridge, 2005. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.597484.

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Within tightly linked regions of the genome it is often inefficient to genotype and test all polymorphisms for an association with disease since the high degree of linkage disequilibrium causes high levels of redundancy. It has long been suggested that an informative subset of these polymorphisms should be selected as markers for analysis. Within the approach of this thesis, a causal polymorphism takes on the role of a latent variable, generating indirect association between phenotype and marker loci which are in linkage disequilibrium with the causal variant. Locally efficient test statistics

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27

Lee, Yiu-fai, and 李耀暉. "Analysis for segmental sharing and linkage disequilibrium: a genomewide association study on myopia." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2009. http://hub.hku.hk/bib/B43912217.

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28

Jiang, Ning. "Linkage disequilibrium based eQTL analysis and comparative evolutionary epigenetic regulation of gene transcription." Thesis, University of Birmingham, 2013. http://etheses.bham.ac.uk//id/eprint/4031/.

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Genome-Wide Association Study (GWAS) has recently been proposed as a powerful strategy for detecting the many subtle genetic variants that underlie phenotypic variation of complex polygenic traits in population-based samples. One of the main obstacles to successfully using the linkage disequilibrium based methods is knowledge of any underlying population structure. The presence of subgroups within a population can result in spurious association. A robust statistical method is developed to remove the population structure interference in GWAS by incorporating single control marker into testing f

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29

Macpherson, James Neil. "Linkage disequilibrium between DNA polymorphisms in a natural population of Drosophila melanogaster Meigen." Thesis, University of Edinburgh, 1989. http://hdl.handle.net/1842/12530.

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30

Schramm, Heather Elizabeth. "Development of mapping by admixture linkage disequilibrium for understanding human complex genetic diseases /." For electronic version search Digital dissertations database. Restricted to UC campuses. Access is free to UC campus dissertations, 2003. http://uclibs.org/PID/11984.

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31

Carvalho, Santos Pablo Sandro [Verfasser]. "Linkage disequilibrium and transmission distortion affecting human chromosome 6p / Pablo Sandro Carvalho Santos." Berlin : Freie Universität Berlin, 2010. http://d-nb.info/1025127048/34.

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32

Jung, Jeesun. "High resolution linkage and association study of quantitative trait loci." Texas A&M University, 2004. http://hdl.handle.net/1969.1/2681.

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As a large number of single nucleotide polymorphisms (SNPs) and microsatellite markers are available, high resolution mapping employing multiple markers or multiple allele markers is an important step to identify quantitative trait locus (QTL) of complex human disease. For many complex diseases, quantitative phenotype values contain more information than dichotomous traits do. Much research has been done on conducting high resolution mapping using information of linkage and linkage disequilibrium. The most commonly employed approaches for mapping QTL are pedigree-based linkage analysis and pop

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33

Hyten, David Lee. "Genetic diversity and linkage disequilibrium in wild soybean, landraces, ancestral, and elite soybean populations." College Park, Md. : University of Maryland, 2005. http://hdl.handle.net/1903/2441.

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Thesis (Ph. D.) -- University of Maryland, College Park, 2005.<br>Thesis research directed by: Natural Resource Sciences. Title from t.p. of PDF. Includes bibliographical references. Published by UMI Dissertation Services, Ann Arbor, Mich. Also available in paper.

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34

Zhu, Guohua. "Ascertainment in two-phase sampling designs for segregation and linkage analysis /." Connect to text online, 2005. http://rave.ohiolink.edu/etdc/view?acc%5Fnum=case1112844349.

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Thesis (Ph. D.)--Case Western Reserve University, 2005.<br>[School of Medicine] Department of Epidemiology and Biostatistics. Includes bibliographical references. Available online via OhioLINK's ETD Center.

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35

Larsson, Hanna. "Population Genetics and Genome Organization of Norway Spruce." Doctoral thesis, Uppsala universitet, Växtekologi och evolution, 2012. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-180370.

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Understanding the underlying genetic causes of adaptation to local conditions is one of the main goals of population genetics. A strong latitudinal cline in the phenotypic trait of bud set is observed in present day populations of Norway spruce (Picea abies (L.) Karst). The first step towards determining how this strong selection on adaptive traits translates at the loci underlying the trait was to use multilocus sequence data to gain information on the fundamental population genetic properties of Norway spruce. We determined that the level of LD was low and genetic diversity was in the low ra

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36

Larsson, Hanna, Thomas Kallman, Niclas Gyllenstrand, and Martin Lascoux. "Distribution of Long-Range Linkage Disequilibrium and Tajima's D Values in Scandinavian Populations of Norway Spruce (Picea abies)." Uppsala universitet, Växtekologi och evolution, 2013. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-202930.

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The site frequency spectrum of mutations (SFS) and linkage disequilibrium (LD) are the two major sources of information in population genetics studies. In this study we focus on the levels of LD and the SFS and on the effect of sample size on summary statistics in 10 Scandinavian populations of Norway spruce. We found that previous estimates of a low level of LD were highly influenced by both sampling strategy and the fact that data from multiple loci were analyzed jointly. Estimates of LD were in fact heterogeneous across loci and increased within individual populations compared with the esti

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37

Kuo, Tai-Yue. "The construction of linkage disequilibrium maps and their application to association mapping of disease genes." Thesis, University of Southampton, 2008. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.485527.

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Success in association mapping of disease genes depends on knowledge of Linkage Disequilibrium (LD) structure in candidate regions. An LD map characterising such structures is constructed by making use of the Malecot model which describes the decline of LD with physical distance based on pairwise measures of association between SNPs. The HapMap project provides a valuable resource that can be used to construct genome-wide LD maps. However, the millions of SNPs in the HapMap data pose a heavy computational challenge. This difficulty can be resolved by excluding the very dist'nt SNP pairs withou

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Backström, Niclas. "Gene Mapping in Ficedula Flycatchers." Doctoral thesis, Uppsala universitet, Institutionen för evolution, genomik och systematik, 2009. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-9513.

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In order to get full understanding of how evolution proceeds in natural settings it is necessary to reveal the genetic basis of the phenotypic traits that play a role for individual fitness in different environments. There are a few possible approaches, most of which stem from traditional mapping efforts in domestic animals and other model species. Here we set the stage for gene mapping in natural populations of birds by producing a large number of anchor markers of broad utility for avian genetical research and use these markers to generate a genetic map of the collared flycatcher (Ficedula a

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39

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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Liu, Jin. "Penalized methods in genome-wide association studies." Diss., University of Iowa, 2011. https://ir.uiowa.edu/etd/1242.

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Penalized regression methods are becoming increasingly popular in genome-wide association studies (GWAS) for identifying genetic markers associated with disease. However, standard penalized methods such as the LASSO do not take into account the possible linkage disequilibrium between adjacent markers. We propose a novel penalized approach for GWAS using a dense set of single nucleotide polymorphisms (SNPs). The proposed method uses the minimax concave penalty (MCP) for marker selection and incorporates linkage disequilibrium (LD) information by penalizing the difference of the genetic effects

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Graham, Jinko. "Disequilibrium fine-mapping of a rare allele via coalescent models of gene ancestry /." Thesis, Connect to this title online; UW restricted, 1998. http://hdl.handle.net/1773/9568.

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Lõhmussaar, Elin. "The comparative patterns of linkage disequilibrium in European populations and its implication for genetic association studies /." Tartu, Estonia, 2006. http://dspace.utlib.ee/dspace/bitstream/10062/978/5/lohmussaar.pdf.

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Tenesa-Prunyonosa, Albert. "Population-wide linkage disequilibrium and its uses in QTL mapping and estimation of ancestral population size." Thesis, University of Edinburgh, 2003. http://hdl.handle.net/1842/11451.

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The extent of LD was studied in two population, a dairy cattle population from the United Kingdom (UK) and a human isolated Sardinian population. For the dairy cattle population, data from 50 young bulls were available. These bulls were typed at 6 markers on chromosome 2 and 7 markers on chromosome 6, spanning 38 and 20 cM, respectively. LD extended to about 10 cM between pairs of loci in syntenic groups. Given the observed level of LD, mapping methods based upon population-wide association might provide better resolution than linkage methods in the UK dairy cattle population, as well as reduc

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44

Varilo, Teppo. "[The]age of the mutations in the Finnish disease heritage : a genealogical and linkage disequilibrium study." Helsinki : University of Helsinki, 1999. http://ethesis.helsinki.fi/julkaisut/laa/haart/vk/varilo/.

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Liu, Lian. "Topics in measurement error and missing data problems." Thesis, [College Station, Tex. : Texas A&M University, 2007. http://hdl.handle.net/1969.1/ETD-TAMU-1627.

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Söderholm, Simon. "The Complex Genetics of Multiple Sclerosis : A preliminary study of MS-associated SNPs prior to a larger genotyping project." Thesis, Linköpings universitet, Institutionen för fysik, kemi och biologi, 2016. http://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-129423.

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Biomedical research have been revolutionized by recent technological advances, both in the fields of molecular biology and computer science, turning the biomolecular and genetic research into “big data science”. One of the main objectives have been to improve our understanding of complex human diseases. Among those diseases, multiple sclerosis (MS) is considered as one of the most common. MS is a chronic autoimmune disease that cause inflammation and damage to the central nervous system. In this study, a set of bioinformatics analyses have been conducted on SNP data, as an initial step to gain

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47

Doecke, James. "Genetic variation in Runx2 related to bone mineral density." Thesis, Griffith University, 2006. http://hdl.handle.net/10072/367841.

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The main hypotheses tested within this research focussed on the identification of polymorphisms within Runx2, and the classification of these with respect to bone mineral density (BMD). A separate set of hypotheses focussed upon the effects of calcium treatment in an elderly population, to identify any differences in BMD, bone mineral content (BMC) and bone area between the specific genotypes identified. The initial research strategy included taking subjects’ from the extremes of a population to identify alleles specifically related to the bone mineral density trait. The idea was tested using

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Soliai, Marcus Makina. "De novo Genome Assembly and SNP Marker Development of Pyrenophora semeniperda." BYU ScholarsArchive, 2011. https://scholarsarchive.byu.edu/etd/2960.

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Pyrenophora semeniperda (anamorph Drechslera campulata) is a necrotrophic fungal seed pathogen of a variety of grass genra and species, including Bromus tectorum, an exotic grass that has invaded many natural ecosystems of the U.S. Intermountain West. As a natural seed pathogen of B. tectorum, P. semeniperda has potential as a biocontrol agent due to its effectiveness at killing dormant B. tectorum seeds; however, few genetic resources exist for this fungus. Here, the genome assembly of a P. semeniperda isolate using 454 GS-FLX genomic and paired-end pyrosequencing techniques is presented. The

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Gibson, Jane. "Defining linkage disequilibrium patterns and tracts of extended homozygosity to compare populations and search for disease genes." Thesis, University of Southampton, 2008. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.509463.

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Chretien, Jean-Paul. "Genetic mapping of between-population variation using mapping by admixture linkage disequilibrium methodology and application to lipoprotein(A) /." Available to US Hopkins community, 2003. http://wwwlib.umi.com/dissertations/dlnow/3080642.

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