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Hulmel, Maryse. "Expliquer l'interaction genotype*milieu par des genotypes revelateurs chez le ble tendre d'hiver". Rennes, Agrocampus Ouest, 1999. http://www.theses.fr/1999NSARB113.
Pełny tekst źródłaRoshyara, Nab Raj, Katrin Horn, Holger Kirsten, Peter Ahnert i Markus Scholz. "Comparing performance of modern genotype imputation methods in different ethnicities". Universitätsbibliothek Leipzig, 2016. http://nbn-resolving.de/urn:nbn:de:bsz:15-qucosa-213865.
Pełny tekst źródłaYadav, Kush Kumar. "Genotype 1 hepatitis E virus (HEV) ORF4 protein enhances genotype 3 HEV replication". The Ohio State University, 2019. http://rave.ohiolink.edu/etdc/view?acc_num=osu1574781581580768.
Pełny tekst źródłaAlowairdhi, Mohammad Abdullah. "The Cost-Effectiveness of Treatments in Non-Cirrhotic Saudi Arabian Patients with Genotype 1 and Genotype 4 Chronic Hepatitis C". University of Toledo Health Science Campus / OhioLINK, 2017. http://rave.ohiolink.edu/etdc/view?acc_num=mco1492801732185855.
Pełny tekst źródłaPontius, Sarah E. "Genotype-Phenotype: Investigations in Typology". Cincinnati, Ohio : University of Cincinnati, 2007. http://www.ohiolink.edu/etd/view.cgi?acc%5Fnum=ucin1179414436.
Pełny tekst źródłaTitle from electronic theses title page (viewed July 16, 2007). Includes abstract. Keywords: architecture; typology; therapeutic; riding stable Includes bibliographic references.
Cheong, Pak Leng. "Genotype-Phenotype Correlations in Porphyria". Thesis, The University of Sydney, 2015. http://hdl.handle.net/2123/13647.
Pełny tekst źródłaAgut, Busquet Eugènia. "Caracterització fenotípica dels pacients amb hidrosadenitis supurativa". Doctoral thesis, Universitat Autònoma de Barcelona, 2020. http://hdl.handle.net/10803/671584.
Pełny tekst źródłaIntroducción. La hidrosadenitis supurativa (HS) es una enfermedad crónica, inflamatoria de la unidad pilosebácea. Se caracteriza por la formación de nódulos, abscesos y fístulas en zonas ricas en glándulas apocrinas. La etiopatogenia es multifactorial y se relaciona con múltiples comorbilidades. La expresión clínica es diferente interindividualmente y intraindividualment a medida que la enfermedad progresa. Se ha propuesto que diversas vías patogénicas serían las responsables de la expresión fenotípica variada y se han descrito algunas clasificaciones fenotípicas basadas en datos clínicos y epidemiológicos. Objetivos. El objetivo principal fue clasificar a los pacientes de nuestra cohorte en dos clústeres que se pueden interpretar como endotipos de la enfermedad. Los objetivos secundarios fueron: determinar si los pacientes con afectación de la nuca y las pacientes con afectación de la vulva pertenecían a un fenotipo atípico; describir el subgrupo de pacientes con Enfermedad de Dowling-Degos (MDD) y HS y, por último, analizar el perfil antropométrico de un grupo de enfermos con HS en comparación a los enfermos con psoriasis y a un grupo control. Material y métodos. Se analizó la cohorte de pacientes tratados en las consultas monográficas de HS. Para el estudio de la MDD también se incluyeron pacientes del Hospital General de Alicante. Los datos que se recogieron de los pacientes fueron los antecedentes familiares, personales y epidemiológicos; las características clínicas; las medidas antropométricas y los tratamientos. En 103 pacientes, también se analizaron parámetros analíticos (hemograma, vitamina D, insulina, HLA B27, proteinograma, función hepática y renal), inflamatorios (VSG, PCR, interleucinas 10,1,6 y 17) y mutaciones de la vía gama secretasa (APH1A, APH1B, MEFV, NCSTN, PSEN1, PSEN2, psenes, PSTPIP1). Resultados. Se obtuvieron dos grupos. El grupo (C1) o atípico estaba formado por pacientes no obesos, la mayoría hombres, con un debut precoz, alteraciones de la vía gama secretasa, incremento de IL-10 y lesiones en la parte posterior del tronco tipo acné conglobata y foliculitis cicatricial. El segundo grupo (C2) se caracterizaba por incluir pacientes obesos, con un debut más tardío, con un incremento de la PCR, ILs-1, 6 y 17; por la formación de abscesos y de lesiones en la parte anterior del cuerpo. El subgrupo de pacientes con afectación de la nuca se podía incluir en el C1, ya que presentaban mayor gravedad y la mayoría eran hombres delgados. Las enfermas con afectación de la vulva, también presentaban un fenotipo atípico con predominio de lesiones foliculares y cicatriciales, un IMC inferior, una mayor gravedad, pero excepcionalmente un debut más tardío. Por otra parte, los pacientes afectos de MDD presentaban un debut más precoz y un patrón clínico compatible con el grupo C1, pero por el contrario, un 53% de los enfermos tenían sobrepeso y prácticamente de forma constante lesiones axilares e ingles (característico del grupo C2). Cuando se comparaba el IMC y el porcentaje de grasa corporal entre pacientes con HS, psoriasis y un grupo control, se observa que el porcentaje de grasa corporal era superior en los pacientes con HS en comparación al grupo control (P = 0,02 ), pero no se observará ninguna relación con la gravedad. En fases iniciales de la enfermedad, el pilar terapéutico de los pacientes del grupo C1 serían los fármacos con acción sobre la unidad folicular (acitretina, gluconato de zinc, sulfona, colchicina, antiandrógenos), mientras que los del grupo C2, serían los antibióticos . Conclusiones. Existen dos clústeres interpretables como endotipos: el C2 o típico y el C1 o atípico, donde se incluyen los enfermos con afectación de la nuca, la vulva y los enfermos con MDD. No hay ningún tratamiento curativo para y los equipos multidisciplinares para el manejo integral del enfermo son indispensables.
Introduction. Hidrosadenitis suppurativa (HS) is a chronic, inflammatory disease of the pilosebaceous unit. It is characterized by the formation of nodules, abscesses and fistulas in areas rich in apocrine glands. The etiopathogenesis is multifactorial and is related to multiple comorbidities. Clinical expression differs interindividually and intraindividually as the disease progresses. It has been proposed that several pathogenic pathways would be responsible for the varied phenotypic expression. Some phenotypic classifications based on clinical and epidemiological data have been described. Objectives. The main objective was to classify the patients in our cohort into two clústers that could be regarded as endotypes. The secondary endpoints were: to determine whether patients with cervical involvement and patients with vulvar involvement belonged to an atypical phenotype of the disease; describe the subgroup of patients with Dowling-Degos Disease (MDD) and for last, to analyze the anthropometric profile of a group of patients with HS compared to patients with psoriasis and a control group. Material and methods. The cohort of patients treated in the monographic consultations of HS was analyzed. For the study of MDD, five patients from the General Hospital of Alicante were also gathered. The data collected from patients were: family, personal and epidemiological history; clinical features; anthropometric measurements and treatments. In 103 patients, analytical parameters (hemogram, vitamin D, insulin, HLA B27, proteinogram, liver and kidney function), inflammatory (ESR, PCR, interleukins 10, 1, 6, and 17), and mutations in the gamma secretase pathway were also analyzed (APH1A, APH1B, MEFV, NCSTN, PSEN1, PSEN2, PSENEN, PSTPIP1). Results. Two groups were obtained. The group (C1) or atypical was made up of non-obese patients, mostly men, with an early onset, alterations of the gamma secretase pathway, increased IL-10 and lesions in the back of the trunk like acne conglobata and cicatricial follyculitis. The second group (C2) was characterized by including obese patients, with a later onset, with an increase in PCR, ILs-1, 6, and 17 and by the formation of abscesses and lesions in the anterior part of the body. The subgroup of patients with neck involvement could be included within C1, as they presented more severity and most were thin men. Patients with vulvar involvement also had an atypical phenotype with a predominance of follicular and scarring lesions, a lower BMI, a higher severity, but exceptionally a later onset. In contrast, patients with MDD had an earlier onset and a clinical pattern compatible with the C1 group, but in contrast, 53% of them were overweight and most of them had either axillary or inguinal involvement (typical of C2). When comparing BMI and body fat percentage between patients with HS, psoriasis and a control group, it was observed that the percentage of body fat was higher in patients with HS compared to the control group (P = 0.02), but no relation to severity. In the early stages of the disease, the mainstay of treatment for patients in group C1 are those drugs that act on the follicular unit (acitretin, zinc gluconate, sulfone, colchicine, antiandrogens), while for those patients in group C2, antibiotics. Conclusions. There are two clústers/endotypes: C2 or typical and C1 or atypical, which includes patients with neck, vulva and MDD involvement. There is no curative treatment per se and multidisciplinary teams that carry out an integrative patient management are mandatory.
Habib, Farhat Abbas. "Genotype-phenotype correlation using phylogenetic trees". Columbus, Ohio : Ohio State University, 2007. http://rave.ohiolink.edu/etdc/view?acc%5Fnum=osu1187297400.
Pełny tekst źródłaBurke, Georgina. "Genotype - phenotype correlations in congenital myasthenia". Thesis, University of Oxford, 2006. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.437178.
Pełny tekst źródłaGhasimi, Soma. "Genotype-phenotype studies in brain tumors". Doctoral thesis, Umeå universitet, Onkologi, 2013. http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-83185.
Pełny tekst źródłaCancer research foundation in northern Sweden and Lions cancer research foundation at Umeå university
Habib, Farhat. "Genotype-phenotype correlation using phylogenetic trees". The Ohio State University, 2007. http://rave.ohiolink.edu/etdc/view?acc_num=osu1187297400.
Pełny tekst źródłaSinclair, Anna Grace. "Genotype-nutrition interactions in breeding sows". Thesis, University of Aberdeen, 1997. http://digitool.abdn.ac.uk/R?func=search-advanced-go&find_code1=WSN&request1=AAIU090362.
Pełny tekst źródłaJordan, Natasha Patricia. "Genotype-phenotype relations in lupus nephritis". Thesis, King's College London (University of London), 2014. http://kclpure.kcl.ac.uk/portal/en/theses/genotypephenotype-relations-in-lupus-nephritis(645d8e22-23b7-40d5-8c8d-23efeabf5d56).html.
Pełny tekst źródłaDingle, Kamaludin. "Probabilistic bias in genotype-phenotype maps". Thesis, University of Oxford, 2014. http://ora.ox.ac.uk/objects/uuid:eba8801e-182e-42f5-aa0a-d3d914fd7923.
Pełny tekst źródłaSouthward, Katie Hannah. "Genotype, phenotype and outcomes in colorectal cancer". Thesis, University of Leeds, 2016. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.713695.
Pełny tekst źródłaBrais, Bernard. "Oculopharyngeal muscular dystrophy : from phenotype to genotype". Thesis, National Library of Canada = Bibliothèque nationale du Canada, 1998. http://www.collectionscanada.ca/obj/s4/f2/dsk1/tape11/PQDD_0002/NQ44369.pdf.
Pełny tekst źródłaBrinza, Dumitru. "Discrete Algorithms for Analysis of Genotype Data". Digital Archive @ GSU, 2007. http://digitalarchive.gsu.edu/cs_diss/19.
Pełny tekst źródłaZhang, Jun. "Genotype/Haplotype Tagging Methods and their Validation". Digital Archive @ GSU, 2007. http://digitalarchive.gsu.edu/cs_theses/51.
Pełny tekst źródłaPodder, Mohua. "Robust genotype classification using dynamic variable selection". Thesis, University of British Columbia, 2008. http://hdl.handle.net/2429/1602.
Pełny tekst źródłaIngleby, Fiona Caroline. "Genotype-by-environment interactions and sexual selection". Thesis, University of Exeter, 2012. http://hdl.handle.net/10036/3881.
Pełny tekst źródłaWu, Chuang. "Phenotype Inference from Genotype in RNA Viruses". Research Showcase @ CMU, 2014. http://repository.cmu.edu/dissertations/457.
Pełny tekst źródłaSassi, Mohammed M. "Apolipoprotein-E genotype in major neurodegenerative diseases". Thesis, University of Nottingham, 1996. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.339716.
Pełny tekst źródłaO'Brien, Kirtsy K. "Genotype - phenotype relationships in late onset dementia". Thesis, University of Newcastle Upon Tyne, 2003. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.402161.
Pełny tekst źródłaBurridge, C. Y. "Latent variable models for genotype-environment interaction". Thesis, University of Reading, 1988. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.383469.
Pełny tekst źródłaCorreia, Annapaula. "Linking phenotype to genotype in Pseudonas aeruginosa". Thesis, University of East Anglia, 2016. https://ueaeprints.uea.ac.uk/65369/.
Pełny tekst źródłaOkoro, Chinyere Kyna. "Invasive Salmonella typhimurium : linking phenotype to genotype". Thesis, University of Cambridge, 2013. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.607714.
Pełny tekst źródłaO'Connor, Timothy. "Detecting evolutionary dynamics of genotype-phenotype associations". Thesis, University of Cambridge, 2010. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.609119.
Pełny tekst źródłaGardner, Catherine Joanne. "Genotype-phenotype correlation in sickle cell disease". Thesis, King's College London (University of London), 2017. https://kclpure.kcl.ac.uk/portal/en/theses/genotypephenotype-correlation-in-sickle-cell-disease(07a190be-c88a-41f2-8e74-e063d85919a3).html.
Pełny tekst źródłaAdam, Laura. "Mapping Genotype to Phenotype using Attribute Grammar". Diss., Virginia Tech, 2013. http://hdl.handle.net/10919/51768.
Pełny tekst źródłaPh. D.
Peel, Michelle C. (Michelle Carolyn) Carleton University Dissertation Biology. "Catabolic genotype distributions in the Niagara watershed". Ottawa, 1996.
Znajdź pełny tekst źródłaGeorge, Gilu. "Genotype by environment interaction in shoot branching". Thesis, University of York, 2012. http://etheses.whiterose.ac.uk/2831/.
Pełny tekst źródłaAl, Maani Noor Walid Salem. "Refining genotype-phenotype correlation in epidermolysis bullosa". Thesis, King's College London (University of London), 2017. https://kclpure.kcl.ac.uk/portal/en/theses/refining-genotypephenotype-correlation-in-epidermolysis-bullosa(0efb4606-e7eb-422c-9402-28c29de6ebfc).html.
Pełny tekst źródłaVrcelj, Katarina. "Genotype and phenotype relationships in neurodevelopmental disorders". Thesis, University of Oxford, 2017. http://ora.ox.ac.uk/objects/uuid:a7a9d22c-c92d-4078-9065-b9a9275c49a9.
Pełny tekst źródłaKemble, Henry. "The genotype-phenotype relationship across different scales". Thesis, Sorbonne Paris Cité, 2018. http://www.theses.fr/2018USPCC178/document.
Pełny tekst źródłaWith the molecular revolution in Biology, a mechanistic understanding of the genotype-phenotype relationship became possible. Recently, advances in DNA synthesis and sequencing have enabled the development of deep-mutational scanning experiments, capable of scoring comprehensive libraries of genotypes for a variety of phenotypes over the length of entire genes. Such datasets are not only interesting in themselves, but also allow rigorous testing of quantitative phenotypic models. We used this technology to characterise sequence-fitness maps for 3 model bacterial systems: a global regulator, CRP, an antibiotic-resistance enzyme, β-lactamase, and a small metabolic pathway, consisting of the enzymes AraA and AraB. These different systems were chosen to illuminate the roles of different mechanistic features in shaping the genotype-fitness relationship (regulatory wiring, protein stability and metabolic flux). We find that smooth patterns of fitness effects tend to prevail over idiosyncrasy, indicating that much of the genotype-fitness relationship could be understood from the global shape of smooth underlying phenotype-fitness functions. On the flip side, we see that characterising the genotype-fitness relationship in different systems can be a powerful way to glean phenotypic insights
Ibáñez, Marcelo Esther. "Evolutionary dynamics of populations with genotype-phenotype map". Doctoral thesis, Universitat Politècnica de Catalunya, 2014. http://hdl.handle.net/10803/284931.
Pełny tekst źródłaEn aquesta tesi es desenvolupa un model multi-escala de la dinàmica evolutiva d'una població de cèl·lules, tenint en compte la correspondència entre el genotip i el fenotip determinat per un model de la xarxa de regulació genètica. Estudiem les propietats topològiques de les xarxes genotip-fenotip obtingudes a partir del model multi-escala. D'altra banda, s'estudia el problema de la fugida evolutiva i la supervivència, tenint en compte una aplicació entre genotip i fenotip. Una característica destacable de les poblacions amb aplicació genotip-fenotip és que les pressions selectives actuen sobre els fenotips, en lloc dels genotips. El nostre model multi-escala genera l'evolució d'una xarxa genotip-fenotip representada per un graf pseudo-bipartit, el qual permet formular una definició topològica dels conceptes de robustesa y capacitat evolutiva. A més a més, estudiem el problema de fugida evolutiva de poblacions de cèl¿lules amb una aplicació genotip-fenotip, basat en en un procés de ramificació multi-tipus. Presentem un anàlisi comparatiu entre les xarxes de genotip-fenotip obtingudes a partir del model multi-escala i les xarxes construïdes assumint un espai de genotips de tipus hipercub regular. Comparem els efectes de la probabilitat de fugida i la freqüència d'escapament associades a la dinàmica evolutiva entre ambdues classes de grafs. Anem més enllà de l'estudi de fugida evolutiva mitjançant l'anàlisi de la supervivència a llarg plaç condicionat a fugir. Els enfocaments tradicionals per a l'estudi de la fugida o escapament suposen una taxa de reproducció en el genotip de fugida propera a infinit. Per tant, la supervivència és equivalent a la fugida. Aquí analitzem el procés de supervivència suposant fugida aprofitant el fet que l'entorn natural del problema de fugida dota al sistema amb una separació d'escales de temps: un règim inicial, de temps ràpid, on la fugida realment es produeix; seguit d'una dinàmica molt més lenta dins de la (xarxa neutra del) fenotip de fugida. La probabilitat de supervivència s'analitza en termes de les característiques topològiques de la xarxa neutra del fenotip de fugida
Efremov, Dimitar Georgi. "Correlation of genotype and phenotype in [beta]-thalassemia". [Maastricht : Maastricht : Rijksuniversiteit Limburg] ; University Library, Maastricht University [Host], 1994. http://arno.unimaas.nl/show.cgi?fid=6614.
Pełny tekst źródłaAslam, M. "Competition studies of genotype interactions in crop mixtures". Thesis, Bangor University, 1988. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.381915.
Pełny tekst źródłaPritchard, Tracey Charmaine. "Genotype, environment and disease resistance in hill sheep". Thesis, Bangor University, 2006. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.432059.
Pełny tekst źródłaTrachtenberg, Aaron J. "The effects of APOE genotype on brain function". Thesis, University of Oxford, 2011. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.542982.
Pełny tekst źródłaShaw, Magan Louise. "Characterisation of hepatitis C virus genotype 3 glycoproteins". Thesis, University of Glasgow, 2001. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.390776.
Pełny tekst źródłaBessant, avid Alfred Roger. "Genotype-phenotype correlation in the related retinal dystrophies". Thesis, University College London (University of London), 2003. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.406179.
Pełny tekst źródłaWalsh, Roddy. "Genetic, genotype and imaging studies of hypertrophic cardiomyopathy". Thesis, Imperial College London, 2017. http://hdl.handle.net/10044/1/59756.
Pełny tekst źródłaSaville, Robert Jack. "Understanding DELLA in wheat : linking genotype to phenotype". Thesis, University of East Anglia, 2011. https://ueaeprints.uea.ac.uk/32675/.
Pełny tekst źródłaCloete, Jasper J. E. (Jasper Johannes Erasmus). "Carcass traits in relation to genotype in sheep". Thesis, Stellenbosch : Stellenbosch University, 2002. http://hdl.handle.net/10019.1/52727.
Pełny tekst źródłaENGLISH ABSTRACT: Experiment 1: Two studies were conducted to research the effect of divergent selection for multiple rearing ability on carcass weight, mutton production, meat quality and carcass characteristics of similar-aged Merino sheep. Data of 114 19-month-old Merino sheep, 40 ewes and 74 rams were used in this study. The study was done in two parts over 2 years. Only rams (52) were slaughtered over a two-week period in study A. Twenty-two rams and 40 ewes were slaughtered over a three-week period in study B. The sheep were descended from two selection lines that have been divergently selected for maternal multiple rearing ability since 1986. In brief, ewe and ram progeny of ewes rearing more than one lamb per joining (i.e. that reared twins at least once) were preferred as replacements in the high (H) line. Descendants of ewes that reared fewer than one lamb per joining (i.e. that were barren or lost all lambs born at least once) were preferred as replacements in the low (L) line. In study A the mean (±SE) slaughter weight of H line rams . were 12% heavier (P
Chinoy, Hector. "A correlation of genotype and phenotype in myositis". Thesis, University of Manchester, 2007. http://www.manchester.ac.uk/escholar/uk-ac-man-scw:141949.
Pełny tekst źródłaMatthews, E. L. "The skeletal muscle channelopathies : phenotype, genotype and pathogenesis". Thesis, University College London (University of London), 2014. http://discovery.ucl.ac.uk/1446912/.
Pełny tekst źródłaGordon, Kristiana. "Refining the phenotype and genotype of primary lymphoedema". Thesis, St George's, University of London, 2014. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.676101.
Pełny tekst źródłaBrunklaus, Andreas. "Genotype phenotype relationships in SCN1A related childhood epilepsies". Thesis, University of Glasgow, 2013. http://theses.gla.ac.uk/4518/.
Pełny tekst źródłaROSA, Rogério dos Santos. "Associating genotype sequence properties to haplotype inference errors". Universidade Federal de Pernambuco, 2015. https://repositorio.ufpe.br/handle/123456789/16011.
Pełny tekst źródłaMade 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
Haplotype information has a central role in the understanding and diagnosis of certain illnesses, and also for evolution studies. Since that type of information is hard to obtain directly, computational methods to infer haplotype from genotype data have received great attention from the computational biology community. Unfortunately, haplotype inference is a very hard computational biology problem and the existing methods can only partially identify correct solutions. I present neural network models that use different properties of the data to predict when a method is more prone to make errors. I construct models for three different Haplotype Inference approaches and I show that our models are accurate and statistically relevant. The results of our experiments offer valuable insights on the performance of those methods, opening opportunity for a combination of strategies or improvement of individual approaches. I formally demonstrate that Linkage Disequilibrium (LD) and heterozygosity are very strong indicators of Switch Error tendency for four methods studied, and I delineate scenarios based on LD measures, that reveal a higher or smaller propension of the HI methods to present inference errors, so the correlation between LD and the occurrence of errors varies among regions along the genotypes. I present evidence that considering windows of length 10, immediately to the left of a SNP (upstream region), and eliminating the non-informative SNPs through Fisher’s Test leads to a more suitable correlation between LD and Inference Errors. I apply Multiple Linear Regression to explore the relevance of several biologically meaningful properties of the genotype sequences for the accuracy of the haplotype inference results, developing models for two databases (considering only Humans) and using two error metrics. The accuracy of our results and the stability of our proposed models are supported by statistical evidence.
Haplótipos têm um papel central na compreensão e diagnóstico de determinadas doenças e também para estudos de evolução. Este tipo de informação é difícil de obter diretamente, diante disto, métodos computacionais para inferir haplótipos a partir de dados genotípicos têm recebido grande atenção da comunidade de biologia computacional. Infelizmente, a Inferência de Halótipos é um problema difícil e os métodos existentes só podem predizer parcialmente soluções corretas. Foram desenvolvidos modelos de redes neurais que utilizam diferentes propriedades dos dados para prever quando um método é mais propenso a cometer erros. Foram calibrados modelos para três abordagens de Inferência de Haplótipos diferentes e os resultados validados estatisticamente. Os resultados dos experimentos oferecem informações valiosas sobre o desempenho e comportamento desses métodos, gerando condições para o desenvolvimento de estratégias de combinação de diferentes soluções ou melhoria das abordagens individuais. Foi demonstrado que Desequilíbrio de Ligação (LD) e heterozigosidade são fortes indicadores de tendência de erro, desta forma foram delineados cenários com base em medidas de LD, que revelam quando um método tem maior ou menor propensão de cometer erros. Foi identificado que utilizando janelas de 10 SNPs (polimorfismo de um único nucleotídeo), imediatamente a montante, e eliminando os SNPs não informativos pelo Teste de Fisher leva-se a uma correlação mais adequada entre LD e a ocorrência de erros. Por fim, foi aplicada análise de Regressão Linear para explorar a relevância de várias propriedades biologicamente significativas das sequências de genótipos para a precisão dos resultados de Inferência de Haplótipos, estimou-se modelos para duas bases de dados (considerando apenas humanos) utilizando duas métricas de erro. A precisão dos resultados e a estabilidade dos modelos propostos foram validadas por testes estatísticos.
Tweney, June. "Genotype independent aspects of seed ecology in Taraxacum". Thesis, University of Bath, 1997. https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.390306.
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