Tesis sobre el tema "Statistical genetics"
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Qiao, Dandi. "Statistical Approaches for Next-Generation Sequencing Data". Thesis, Harvard University, 2012. http://dissertations.umi.com/gsas.harvard:10689.
Texto completoOldmeadow, Christopher. "Latent variable models in statistical genetics". Thesis, Queensland University of Technology, 2009. https://eprints.qut.edu.au/31995/1/Christopher_Oldmeadow_Thesis.pdf.
Texto completoBruen, Trevor Cormac Vincent. "Discrete and statistical approaches to genetics". Thesis, McGill University, 2006. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=102964.
Texto completoChapter 2 and Chapter 3 give a number of results relevant to mathematical phylogenetics, in particular maximum parsimony. Chapter 2 presents a new formulation of maximum parsimony in terms of character subdivision, providing a direct link with the character compatibility problem, also known as the perfect phylogeny problem. Specialization of this result to two characters gives a simple formula based on the intersection graph for calculating the parsimony score for a, pair of characters. Chapter 3 further explores maximum parsimony. In particular, it is shown that a maximum parsimony tree for a sequence of characters minimizes a subtree-prune and regraft (SPR) distance to the sets of trees on which each character is convex. Similar connections are also drawn between the Robinson-Foulds distance and a new variant of Dollo parsimony.
Chapter 4 presents an application of the work in Chapters 2 and 3 to develop a statistical test for detecting recombination. An extensive coalescent based simulation study shows that this new test is both robust and powerful in a variety of different circumstances compared to a number of current methods. In fact, a simple model of mutation rate correlation is shown to mislead a number of competing tests, causing recombination to be falsely inferred. Analysis of empirical data sets confirm that the new test is one of the best approaches to distinguish recurrent mutation from recombination.
Finally, Chapter 5 uses the test developed in Chapter 4 to localize recombinant breakpoints in 14 genomic strains of FIV taken from a wild population of cougars. Based on the technique, three recombinant strains of FIV are identified. Previous studies have focused on the epidemiology and population structure of the virus and this study shows that recombination has also played an important role in the evolution of FIV.
Baillie, John Kenneth. "Statistical genetics in infectious disease susceptibility". Thesis, University of Edinburgh, 2013. http://hdl.handle.net/1842/17620.
Texto completoMitchell, Brittany L. "Statistical genetic analyses of neuropsychological traits". Thesis, Queensland University of Technology, 2022. https://eprints.qut.edu.au/227852/14/Brittany%20Mitchell%20Thesis.pdf.
Texto completoHudson, Julie. "Maternal Gene-Environment Effects: An Evaluation of Statistical Approaches to Detect Effects and an Investigation of the Effect of Violations of Model Assumptions". Thesis, Université d'Ottawa / University of Ottawa, 2019. http://hdl.handle.net/10393/39637.
Texto completoCasale, Francesco Paolo. "Multivariate linear mixed models for statistical genetics". Thesis, University of Cambridge, 2016. https://www.repository.cam.ac.uk/handle/1810/267465.
Texto completoCsilléry, Katalin. "Statistical inference in population genetics using microsatellites". Thesis, University of Edinburgh, 2009. http://hdl.handle.net/1842/3865.
Texto completoSperrin, Matthew. "Statistical methodology motivated by problems in genetics". Thesis, Lancaster University, 2010. http://eprints.lancs.ac.uk/49088/.
Texto completoLange, Christoph. "Generalized estimating equation methods in statistical genetics". Thesis, University of Reading, 2000. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.269921.
Texto completoZHANG, GE. "STATISTICAL METHODS IN GENETIC ASSOCIATION". University of Cincinnati / OhioLINK, 2007. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1196099744.
Texto completoWright, David Jonathan. "Investigating statistical homogeneity of a human chromosome". Thesis, Queen Mary, University of London, 1995. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.338927.
Texto completoNgong, Chiano Mathias. "Statistical problems in human genetic linkage analysis". Thesis, University of Cambridge, 1994. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.339750.
Texto completoLiesch, Rahel. "Statistical Genetics for the Budset in Norway Spruce". Thesis, Uppsala University, Department of Mathematics, 2005. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-121386.
Texto completoJung, Min Kyung. "Statistical methods for biological applications". [Bloomington, Ind.] : Indiana University, 2007. http://gateway.proquest.com/openurl?url_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:dissertation&res_dat=xri:pqdiss&rft_dat=xri:pqdiss:3278454.
Texto completoSource: Dissertation Abstracts International, Volume: 68-10, Section: B, page: 6740. Adviser: Elizabeth A. Housworth. Title from dissertation home page (viewed May 20, 2008).
Choy, Yan-tsun. "Statistical evaluation of mixed DNA stains". Click to view the E-thesis via HKUTO, 2009. http://sunzi.lib.hku.hk/hkuto/record/B42664287.
Texto completoYu, Xiaoqing. "Statistical Methods and Analyses for Next-generation Sequencing Data". Case Western Reserve University School of Graduate Studies / OhioLINK, 2014. http://rave.ohiolink.edu/etdc/view?acc_num=case1403708200.
Texto completoYung, Godwin Yuen Han. "Statistical methods for analyzing genetic sequencing association studies". Thesis, Harvard University, 2016. http://nrs.harvard.edu/urn-3:HUL.InstRepos:33493313.
Texto completoBiostatistics
Zang, Yong y 臧勇. "Robust tests under genetic model uncertainty in case-control association studies". Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2011. http://hub.hku.hk/bib/B46419123.
Texto completoShringarpure, Suyash. "Statistical Methods for studying Genetic Variation in Populations". Research Showcase @ CMU, 2012. http://repository.cmu.edu/dissertations/117.
Texto completoChoy, Yan-tsun y 蔡恩浚. "Statistical evaluation of mixed DNA stains". Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2009. http://hub.hku.hk/bib/B42664287.
Texto completoCordell, Heather Jane. "Statistical methods in the genetic analysis of type 1 diabetes". Thesis, University of Oxford, 1995. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.296834.
Texto completoMathieson, Iain. "Genes in space : selection, association and variation in spatially structured populations". Thesis, University of Oxford, 2013. http://ora.ox.ac.uk/objects/uuid:85f051b6-2121-49cf-9468-3ca7ba77cc4a.
Texto completoAhiska, Bartu. "Reference-free identification of genetic variation in metagenomic sequence data using a probabilistic model". Thesis, University of Oxford, 2012. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.561121.
Texto completoBos, David H. "Statistical genetics and molecular evolution of major histocompatibility complex genes". Thesis, University of Canterbury. Biological Sciences, 2005. http://hdl.handle.net/10092/6773.
Texto completoLundell, Jill F. "Tuning Hyperparameters in Supervised Learning Models and Applications of Statistical Learning in Genome-Wide Association Studies with Emphasis on Heritability". DigitalCommons@USU, 2019. https://digitalcommons.usu.edu/etd/7594.
Texto completoVaez, Torshizi Rasoul. "Quantitative genetic analyses of production and reproduction traits in Australian merino sheep". Thesis, The University of Sydney, 1996. https://hdl.handle.net/2123/27593.
Texto completoLee, Yiu-fai y 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.
Texto completoCiampa, Julia Grant. "Multilocus approaches to the detection of disease susceptibility regions : methods and applications". Thesis, University of Oxford, 2012. http://ora.ox.ac.uk/objects/uuid:8f82a624-7d80-438c-af3e-68ce983ff45f.
Texto completoLu, Li. "Some actuarial and statistical investigations into topics on genetics and insurance". Thesis, Heriot-Watt University, 2006. http://hdl.handle.net/10399/154.
Texto completoZorrilla, Luc. "Beyond high mutation highrecombination limit in statisticalgenetics". Thesis, KTH, Fysik, 2021. http://urn.kb.se/resolve?urn=urn:nbn:se:kth:diva-296875.
Texto completoI examensarbetet behandlas modeller i populationsgenetik med två alleler per lokus. Modellerna beskiver hur en mängd genom ändras över tid under inflytande av naturligt urval, mutationer, rekombination och genetisk drift. Fokus ligger på en fas icke-egentlig linkagejämvikt (Quasi Linkage Equilibrium, QLE) med härledningar av Neher och Shraiman. Denna fas finns när rekombination är en snabb process relativt det naturliga urvalet, och förenklar dynamiken avsevärt jämfört med det allmäna fallet. Med användning av resultat som gäller i QLE samt direktkopplingsanalys (Direct Coupling Analysis, DCA) kan man härleda urvalslandskapet i vilket en population befinner sig i, särsklit epistaskoefficienter. Med användning av dessa ideer undersöker vi här i detalj ett samband mellan populationsstorlek, rekombantionshastighet och epistasspridning som beskriver var QLE slutar gälla, från ett DCA- inferens-perspektiv. Vi finner att det inte finns något klart samband mellan den kritiska rekombinationshastigheten och populationsstorleken, men som väntat ett linjärt förhållande mellan epistasvariationen och den kritiska rekombinationshastighete.
Golding, Pauline Lindsay. "Development of a statistical method for the identification of gene-environment interactions". Thesis, University of Edinburgh, 2012. http://hdl.handle.net/1842/6520.
Texto completoShen, Xia. "Novel Statistical Methods in Quantitative Genetics : Modeling Genetic Variance for Quantitative Trait Loci Mapping and Genomic Evaluation". Doctoral thesis, Uppsala universitet, Beräknings- och systembiologi, 2012. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-170091.
Texto completoGuturu, Harendra. "Deciphering human gene regulation using computational and statistical methods". Thesis, Stanford University, 2014. http://pqdtopen.proquest.com/#viewpdf?dispub=3581147.
Texto completoIt is estimated that at least 10-20% of the mammalian genome is dedicated towards regulating the 1-2% of the genome that codes for proteins. This non-coding, regulatory layer is a necessity for the development of complex organisms, but is poorly understood compared to the genetic code used to translate coding DNA into proteins. In this dissertation, I will discuss methods developed to better understand the gene regulatory layer. I begin, in Chapter 1, with a broad overview of gene regulation, motivation for studying it, the state of the art with a historically context and where to look forward.
In Chapter 2, I discuss a computational method developed to detect transcription factor (TF) complexes. The method compares co-occurring motif spacings in conserved versus unconserved regions of the human genome to detect evolutionarily constrained binding sites of rigid transcription factor (TF) complexes. Structural data were integrated to explore overlapping motif arrangements while ensuring physical plausibility of the TF complex. Using this approach, I predicted 422 physically realistic TF complex motifs at 18% false discovery rate (FDR). I found that the set of complexes is enriched in known TF complexes. Additionally, novel complexes were supported by chromatin immunoprecipitation sequencing (ChIP-seq) datasets. Analysis of the structural modeling revealed three cooperativity mechanisms and a tendency of TF pairs to synergize through overlapping binding to the same DNA base pairs in opposite grooves or strands. The TF complexes and associated binding site predictions are made available as a web resource at http://complex.stanford.edu.
Next, in Chapter 3, I discuss how gene enrichment analysis can be applied to genome-wide conserved binding sites to successfully infer regulatory functions for a given TF complex. A genomic screen predicted 732,568 combinatorial binding sites for 422 TF complex motifs. From these predictions, I inferred 2,440 functional roles, which are consistent with known functional roles of TF complexes. In these functional associations, I found interesting themes such as promiscuous partnering of TFs (such as ETS) in the same functional context (T cells). Additionally, functional enrichment identified two novel TF complex motifs associated with spinal cord patterning genes and mammary gland development genes, respectively. Based on these predictions, I discovered novel spinal cord patterning enhancers (5/9, 56% validation rate) and enhancers active in MCF7 cells (11/19, 53% validation rate). This set replete with thousands of additional predictions will serve as a powerful guide for future studies of regulatory patterns and their functional roles.
Then, in Chapter 4, I outline a method developed to predict disease susceptibility due to gene mis-regulation. The method interrogates ensembles of conserved binding sites of regulatory factors disrupted by an individual's variants and then looks for their most significant congregation next to a group of functionally related genes. Strikingly, when the method is applied to five different full human genomes, the top enriched function for each is reflective of their very different medical histories. These results suggest that erosion of gene regulation results in function specific mutation loads that manifest as disease predispositions in a familial lineage. Additionally, this aggregate analysis method addresses the problem that although many human diseases have a genetic component involving many loci, the majority of studies are statistically underpowered to isolate the many contributing loci.
Finally, I conclude in Chapter 5 with a summary of my findings throughout my research and future directions of research based on my findings.
Hu, Xianghong. "Statistical methods for Mendelian randomization using GWAS summary data". HKBU Institutional Repository, 2019. https://repository.hkbu.edu.hk/etd_oa/639.
Texto completoLi, Yong-Jun. "The application of statistical physics in bioinformatics /". View Abstract or Full-Text, 2003. http://library.ust.hk/cgi/db/thesis.pl?PHYS%202003%20LI.
Texto completoIncludes bibliographical references (leaves 55-58). Also available in electronic version. Access restricted to campus users.
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.
Texto completoAllchin, Lorraine Doreen May. "Statistical methods for mapping complex traits". Thesis, University of Oxford, 2014. http://ora.ox.ac.uk/objects/uuid:65f392ba-1b64-4b00-8871-7cee98809ce1.
Texto completoSilver, Matthew. "Statistical methods in neuroimaging genetics : pathways sparse regression and cluster size inference". Thesis, Imperial College London, 2013. http://hdl.handle.net/10044/1/11124.
Texto completoKecskemetry, Peter D. "Computationally intensive methods for hidden Markov models with applications to statistical genetics". Thesis, University of Oxford, 2014. https://ora.ox.ac.uk/objects/uuid:8dd5d68d-27e9-4412-868c-0477e438a2c5.
Texto completoDilthey, Alexander Tilo. "Statistical HLA type imputation from large and heterogeneous datasets". Thesis, University of Oxford, 2012. http://ora.ox.ac.uk/objects/uuid:1bca18bf-b9d5-4777-b58e-a0dca4c9dbea.
Texto completoSharif, Maarya. "Statistical issues in modelling the ancestry from Y-chromosome and surname data". Thesis, University of Glasgow, 2012. http://theses.gla.ac.uk/3407/.
Texto completoFernandez, Daniel. "Cell States and Cell Fate: Statistical and Computational Models in (Epi)Genomics". Thesis, Harvard University, 2015. http://nrs.harvard.edu/urn-3:HUL.InstRepos:14226043.
Texto completoCrisci, Jessica L. "On Identifying Signatures of Positive Selection in Human Populations: A Dissertation". eScholarship@UMMS, 2013. https://escholarship.umassmed.edu/gsbs_diss/664.
Texto completoCrisci, Jessica L. "On Identifying Signatures of Positive Selection in Human Populations: A Dissertation". eScholarship@UMMS, 2006. http://escholarship.umassmed.edu/gsbs_diss/664.
Texto completoKatsumata, Yuriko. "STATISTICAL ANALYSES TO DETECT AND REFINE GENETIC ASSOCIATIONS WITH NEURODEGENERATIVE DISEASES". UKnowledge, 2017. https://uknowledge.uky.edu/epb_etds/17.
Texto completoSilva, Heyder Diniz. "Aspectos biométricos da detecção de QTL'S ("Quantitative Trait Loci") em espécies cultivadas". Universidade de São Paulo, 2001. http://www.teses.usp.br/teses/disponiveis/11/11134/tde-18102002-162652/.
Texto completoIn general terms, QTL mapping di®ers from other research ac-tivities in genetics. Being basically a multiple test procedure, problems arise which are related to the joint level of signi¯cance of the analysis, and consequently, to its power. Using computational simulation of data, the power of simple marker analysis, carried out through multiple linear regression, using stepwise procedures to select the markers was obtained. Procedures based on single tests, using both the FDR and the Bonferroni criteria to determinate the joint level of signi¯cance were also used. Results showed that the procedure based on multiple regression, using the stepwise technique, was the most powerful in identifying markers associated to QTL's. However, in cases where its power was smaller, its advantage was the ability to detect only markers strongly associates with QTL's. In comparision with the Bonferroni method, the FDR criterion was in general more powerful, and should be adopted in the interval mapping procedures. Additional problems found in the QTL analysis refer to the QTL x environment interaction. We consider this aspect by par-titioning the genotype x environment interaction variance in components explained by the molecular markers and deviations. This alowed estimating the proportion of the genetic variance (pm), and genotype x environment variance (pms), explained by the markers. These estimators are not a®ected by deviations of allelic frequencies of the markers in relation to the expected values (1:2:1 in a F2 generation, 1:1 in a backcross , etc). However, there is a high probability of obtaining estimates out of the parametric range, specially for high values of this proportion. Nevertheless, these probabilities can be reduced by increasing the number of replications and/or environments where the progenies are evaluated. Based on a set of grain yield data, obtained from the evaluation of 68 maize progenies genotyped for 77 codominant molecular markers, and evaluated as top crosses in four environments, the presented methodologies allowed estimating proportions pm and pms as well the classification of markers associated to QTL's, with respect to its level of genotype x environment interaction. The procedure also allowed the identification of chromosomic regions, involved in the genetical control of the considered trait, according to its stability, in relation to the observed environmental variation.
Ramasamy, Adaikalavan. "Increasing statistical power and generalizability in genomics microarray research". Thesis, University of Oxford, 2009. http://ora.ox.ac.uk/objects/uuid:81ccede7-a268-4c7a-9bf8-a2b68634846d.
Texto completoAMALAPURAPU, SUCHITRA S. "A STATISTICAL ANALYSIS OF AMINO ACID CHANGES IN THE HUMAN GENOME". University of Cincinnati / OhioLINK, 2003. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1051720394.
Texto completoHe, Karen Yingyi. "DETECTING LOW FREQUENCY AND RARE VARIANTS ASSOCIATED WITH BLOOD PRESSURE". Case Western Reserve University School of Graduate Studies / OhioLINK, 2020. http://rave.ohiolink.edu/etdc/view?acc_num=case157435735160471.
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