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Dissertations / Theses on the topic 'SNP array'

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Published: 4 June 2021

Last updated: 26 July 2025

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1

Kreuz, Markus. "Entwicklung und Implementierung von Auswertungswerkzeugen für Hochdurchsatz-DNA-Kopienzahl-Analysen und deren Anwendung auf Lymphomdaten." Doctoral thesis, Universitätsbibliothek Leipzig, 2015. http://nbn-resolving.de/urn:nbn:de:bsz:15-qucosa-161664.

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Aberrationen in der DNA-Kopienzahl sind häufige genetische Veränderungen bei malignen Lymphomerkrankungen. Zugewinne sowie Deletionen stellen dabei Mechanismen zur Onkogen-Aktivierung sowie Tumorsuppressorgen-Inaktivierung dar und tragen somit zur Pathogenese der Erkrankung bei. Array-CGH und SNP-Array sind Messplattformen, die die genomweite Bestimmung von Kopienzahlaberrationen in einem Experiment ermöglichen. Die bei der Analyse entstehenden Datensätze sind komplex und erfordern automatische Methoden zur Unterstützung der Analyse und Interpretation der Messergebnisse. In dieser Promotionsar

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Ramos, Alexis. "Cancer Genome Characterization with SNP Array and Whole-Exome Sequencing Analysis." Thesis, Harvard University, 2011. http://dissertations.umi.com/gsas.harvard:10036.

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Cancer, the uncontrolled growth of morphologically and genetically abnormal cells in the body, is a major worldwide public health problem and there is a great need for novel insights into this disease. The majority of tumors arise from the acquisition of somatic alterations leading to changes in gene function and expression. The clinical success of targeted therapeutics in molecularly defined subsets of patients has highlighted the need for comprehensive characterization of the somatic alterations in individual cancer types. Copy number profiling using SNP arrays is a common approach for profi

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Quinto, Cortes Consuelo Dayzu, and Cortes Consuelo Dayzu Quinto. "Inferring Demographic History of Admixed Human Populations with SNP Array Data." Diss., The University of Arizona, 2016. http://hdl.handle.net/10150/621870.

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The demographic history of human populations, both archaic and modern, have been the focus of extensive research. Earlier studies were based on a small number of genetic markers but technological advances have made possible the examination of data at the genome scale to answer important questions regarding the history of our species. A widely used application of single nucleotide polymorphisms (SNPs) are genotyping arrays that allow the study of several hundred thousand of these sites at the same time. However, most of the SNPs present in commercial genotyping arrays have often been discovered

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4

Oliveira, Lorraynne Guimarães. "O PAPEL DAS DUPLICAÇÕES SEGMENTARES NA FORMAÇÃO DE VARIAÇÃO DO NÚMERO DE CÓPIAS de novo APÓS A EXPOSIÇÃO PARENTAL A DOSES BAIXAS DE RADIAÇÃO IONIZANTE OBSERVADAS NA GERAÇÃO F1 DE INDIVÍDUOS ACIDENTALMENTE EXPOSTOS AO CÉSIO-137." Pontifícia Universidade Católica de Goiás, 2018. http://tede2.pucgoias.edu.br:8080/handle/tede/3999.

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Submitted by admin tede (tede@pucgoias.edu.br) on 2018-06-22T19:18:01Z No. of bitstreams: 1 LORRAYNNE GUIMARÃES OLIVEIRA.pdf: 972251 bytes, checksum: 3d1335f8344b25e2c479fd95096c777d (MD5)<br>Made available in DSpace on 2018-06-22T19:18:01Z (GMT). No. of bitstreams: 1 LORRAYNNE GUIMARÃES OLIVEIRA.pdf: 972251 bytes, checksum: 3d1335f8344b25e2c479fd95096c777d (MD5) Previous issue date: 2018-03-08<br>At the end of 1987 was one of the most serious radiological accidents in history, occurred in Goiânia-Goiás-Brazil, causing the contamination of the environment, succeending in the external irrad

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Romano, Alessandra. "High resolution molecular karyotyping and proteomic analysis in hematological malignancies." Thesis, Universita' degli Studi di Catania, 2011. http://hdl.handle.net/10761/96.

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Il presente lavoro di tesi ha applicato i risultati della genomica funzionale in termini traslazionali a due neoplasie ematologiche: le sindromi mielodislastiche (MDS), e il loro potenziale ventaglio di evoluzione a leucemia mieloide acuta, e l'altrettanto ampio spettro di gammopatie monoclonali, fino alla condizione di mieloma multiplo (MM). In entrambi i casi, infatti, le recenti acquisizioni derivanti dall`applicazione dei nuovi farmaci hanno evidenziato la necessita' di indirizzare l`approccio terapeutico contemporaneamente alle cellule neoplastiche e a quelle del microambiente. Nelle MDS

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Mattsson, Anna. "Difference in copy number variants in peripheral blood and bone marrow detected by SNP-array." Thesis, Umeå universitet, Biomedicinsk laboratorievetenskap, 2011. http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-58641.

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7

Levy, Jonathan. "Etude des variants rares et des régions d'homozygotie par SNP array dans les pathologies neurodéveloppementales." Thesis, Sorbonne Paris Cité, 2018. http://www.theses.fr/2018USPCC322.

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L’analyse chromosomique sur puce à ADN (ACPA) est actuellement l’examen réalisé en première intention dans le cadre de pathologies neurodéveloppementales. Les puces de type SNP sont des puces de génotypage qui peuvent détecter des CNVs (copie number variants) mais également des régions d’homozygotie (ROHs). Nous avons analysé par puce SNP une cohorte de 5 050 patients présentant un phénotype neurodéveloppemental. Dans un premier temps, nous nous sommes concentrés sur l’étude des CNVs contenant un ou deux gènes afin de caractériser le génotype et le phénotype associés à plusieurs syndromes micr

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PELLEGRINO, LAURA. "A MEDIUM RESOLUTION SNP ARRAY BASED COPY NUMBER VARIANTS SCAN IN BROWN SWISS DAIRY CATTLE." Doctoral thesis, Università degli Studi di Milano, 2013. http://hdl.handle.net/2434/218529.

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Recent reports indicate copy number variations (CNVs) to be functionally significant. This study presents a medium resolution map of CNV regions (CNVRs) in Brown Swiss dairy cattle, from to this day, the largest CNV genome scan in any cattle breed. We genotyped 1,342 bulls and after quality filtering on males we called CNVs with PennCNV and with “Copy Number Analysis Module” (CNAM) of SVS7 software (Goldenhelix) for a total of 46,728 loci anchored on the UMD3.1 assembly. We corrected for sequence composition flanking each SNP and employed principal component analysis for CNAM to correct for te

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

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

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PICECI, SPARASCIO FRANCESCA. "Study of molecular basis of Oculo-Auricolo-Vertebral-Spectrum." Doctoral thesis, Università di Foggia, 2017. http://hdl.handle.net/11369/363288.

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Lo spettro Oculo auriculo vertebrale (OAVS; OMIM 164210) è una patologia clinicamente e geneticamente eterogenea che deriva dallo sviluppo anomalo dei derivati del primo e del secondo arco branchiale. Le principali caratteristiche cliniche includono difetti dello sviluppo oculare, auricolare, mandibolare e vertebrale. Possono inoltre essere presenti anomalie del sistema nervoso centrale, anomalie cardiache, polmonari, renali e scheletriche. Sebbene l’eziologia non sia ancora nota, l'individuazione di alcune famiglie che presentano un eredità di tipo autosomico dominante e autosomico rece

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Mangano, E. "Genomic profiling of chromosomal instability in renal carcinoma primary cultures and cell lines by SNP array technology." Doctoral thesis, Università degli Studi di Milano, 2009. http://hdl.handle.net/2434/61979.

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The work described in this PhD thesis aimed to characterize 9 clear cell renal carcinoma primary cultures (RCCpc) and their parental tumor tissues and 5 commercial RCC cell lines, using the Affymetrix GeneChip® SNP array technology (50K and 250K platforms). We performed a genome-wide analysis of copy number alterations (CNAs) and LOH events, together with allele dosage, using CNAG (v3.0) and Affymetrix GTC (v2.0) software. RCCpc and parental tumor tissues were assessed comparing each culture and parental tissue to its corresponding blood sample, while cell lines were analyzed using 48 HapMap C

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Bouron-Dal, Soglio Dorothée. "Différentes méthodes d'approche moléculaires et cytogénétiques de tumeurs rares pédiatriques : Intérêts d'une nouvelle technologie le SNP-array." Paris 11, 2009. http://www.theses.fr/2009PA11T027.

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BARDINI, MICHELA. "Infant ALL with MLL-AF4 is sustained by t(4;11) as the sole genetic abnormality, and it is initiated in mice by phenotypically and functionally distinct leukemic stem cell subsets." Doctoral thesis, Università Vita-Salute San Raffaele Milano, 2010. http://hdl.handle.net/10281/44105.

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Ogni giorno, circa mille miliardi di nuove cellule vengono prodotte dal midollo osseo e messe in circolazione nel sangue periferico per far fronte alle necessità del nostro organismo. Tutte le cellule che compongono il nostro sangue, derivano da una stessa cellula-madre, chiamata cellula staminale ematopoietica, un precursore primordiale e immaturo che ha la capacità di espandersi e la potenzilità di differenzare a eritrociti, linfociti, leucociti, piastrine. Il processo di differenziamento che va dalla cellula staminale alle cellule mature circolanti è detto emopoiesi. La leucemia è un tipo d

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Lalonde, Matthew Scott. "HIV Drug Resistance Polymorphism Analysis Using Ligase Discrimination." Case Western Reserve University School of Graduate Studies / OhioLINK, 2009. http://rave.ohiolink.edu/etdc/view?acc_num=case1244059520.

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DE, CINQUE Marianna. "Caratterizzazione clinica e citogenetico-molecolare in studenti molisani con disturbi del neurosviluppo." Doctoral thesis, Università degli studi del Molise, 2018. http://hdl.handle.net/11695/84677.

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Nonostante i progressi compiuti nella conoscenza dei disturbi del neurosviluppo, attualmente le cause genetiche rimangono ancora largamente non identificate. I motivi vanno ricercati nell’ampia variabilità dell’espressione clinica, che rispecchia una notevole complessità ed eterogeneità genetica. Questa realtà è presente anche nella regione Molise. Alla luce di tali premesse, lo scopo del presente studio è stato quello di caratterizzare i disturbi del neurosviluppo, ad eziologia non nota, in un gruppo di studenti molisani attraverso un percorso multidisciplinare -che ha privilegiato l’approcc

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Peñaloza, Navarro Carolina Soledad. "Characterization of genome-wide deviations from Mendelian inheritance in bivalve species." Thesis, University of Edinburgh, 2018. http://hdl.handle.net/1842/33036.

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Marine bivalves are a group of species composed of clams, mussels and oysters. Bivalves are keystone species in coastal ecosystems and represent an increasingly important segment of the global aquaculture industry. Domestication of shellfish species is in the early stages, with few organized breeding programmes and a heavy reliance on wild seed. Consequently, the development and use of genomic markers may significantly assist shellfish aquaculture breeding and production. However, molecular genetic markers typically exhibit unusual patterns of segregation in bivalve species, which result in de

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Marincevic, Millaray. "Array-based Characterization of Chronic Lymphocytic Leukemia : - with Focus on Subsets Carrying Stereotyped B-cell Receptors." Doctoral thesis, Uppsala universitet, Institutionen för genetik och patologi, 2010. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-132895.

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In chronic lymphocytic leukemia (CLL), the presence of multiple subsets expressing ‘stereotyped’ B-cell receptors (BCRs) has implicated antigen(s) in leukemogenesis. These stereotyped subsets display similar immunoglobulin (IG) gene usage, almost identical complementarity determining region 3’s and may share clinical features. For instance, subsets #1 (IGHV1/5/7/IGKV1-39) and #2 (IGHV3-21/IGLV3-21) have inferior outcome compared to non-subset patients, whereas subset #4 (IGHV4-34/IGKV2-30) display a favourable prognosis. The aim of this thesis was to investigate genomic aberrations, gene expre

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Santos, Alexsandro dos. "SNP arrays na detecção de alterações estruturais e no número de cópias em pacientes portadores de deficiência intelectual idiopática." Universidade de São Paulo, 2017. http://www.teses.usp.br/teses/disponiveis/41/41131/tde-12072017-082102/.

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Deficiência intelectual é uma condição heterogênea e complexa, diagnosticada em 1-3% da população mundial. Desequilíbrios cromossômicos e variações no número de cópias (CNVs) são as causas mais frequentes de DI e, até recentemente, a maior parte desse desequilíbrio era averiguado por análises citogenéticas convencionais. Antes da utilização de microarrays cromossômicos (CMA), a causa etiológica da DI ainda permanecia desconhecida em ~60% dos pacientes. A aplicação de CMA tem revolucionado o diagnóstico da DI e de muitas outras doenças congênitas, permitindo explicar a etiologia molecular de pa

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Santos, Mauren Fernanda Moller dos. "Estudo genético de síndromes associadas à obesidade." Universidade de São Paulo, 2014. http://www.teses.usp.br/teses/disponiveis/41/41131/tde-26082014-155459/.

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A obesidade se tornou uma das maiores preocupações de saúde pública. É um distúrbio neuroendócrino, no qual fatores ambientais e genéticos agem em conjunto, levando ao excesso de armazenamento de energia na forma de gordura corporal. A síndrome de Prader-Willi (PWS) é a mais freqüente das síndromes que possui a obesidade como uma de suas características, com incidência de 1:25.000 nascimentos. É caracterizada por hipotonia neonatal com dificuldade de sucção, atraso do desenvolvimento neuropsicomotor (DNPM), hiperfagia, obesidade, baixa estatura em adolescentes, mãos e pés pequenos, hipogonadis

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

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

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Cahill, Nicola. "Molecular Genetic and DNA Methylation Profiling of Chronic Lymphocytic Leukaemia : A Focus on Divergent Prognostic Subgroups and Subsets." Doctoral thesis, Uppsala universitet, Institutionen för immunologi, genetik och patologi, 2012. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-168945.

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Advancements in prognostication have improved the subdivision of chronic lymphocytic leukaemia (CLL) into diverse prognostic subgroups. In CLL, IGHV unmutated and IGHV3-21 genes are associated with a poor-prognosis, conversely, IGHV mutated genes with a favourable outcome. The finding of multiple CLL subsets expressing ‘stereotyped’ B-cell receptors (BCRs) has suggested a role for antigen(s) in leukemogenesis. Patients belonging to certain stereotyped subsets share clinical and biological characteristics, yet limited knowledge exists regarding the genetic and epigenetic events that may influen

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Mahas, Ahmed Ibrahim. "Distinguishing Melanocytic Nevi From Melanoma by DNA Copy Number Changes: Array-Comparative Genomic Hybridization As a Research Tool." Wright State University / OhioLINK, 2015. http://rave.ohiolink.edu/etdc/view?acc_num=wright1437782090.

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Bubien, Virginie. "Identification de nouveaux gènes de prédisposition héréditaire au cancer du sein par génotypage tumoral et séquençage de nouvelle génération." Thesis, Bordeaux, 2016. http://www.theses.fr/2016BORD0393/document.

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5 à 10% des cancers du sein sont héréditaires mais parmi ceux-ci seulement la moitié est expliquée par une altération constitutionnelle d’un gène de prédisposition connu tels que les gènes BRCA1 et BRCA2. L’importante hétérogénéité génétique qui caractérise les famillesBRCAx rend difficile la réalisation d’études familiales groupées et ne permet pas l’identification de nouveaux gènes de prédisposition au cancer du sein selon les méthodes classiques de liaison génétique ou d’association. Les techniques de séquençage de nouvelle génération (NGS) à l’échelle de l’exome ou du génome entier, autori

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Kohl, Ilana. "Pesquisa de genes e/ou segmentos cromossômicos em pacientes com obesidade, e/ou hiperfagia, atraso do desenvolvimento neuropsicomotor e/ou dificuldades de aprendizado e distúrbios de comportamento." Universidade de São Paulo, 2010. http://www.teses.usp.br/teses/disponiveis/41/41131/tde-07102010-134828/.

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Obesidade sindrômica é definida como a obesidade ocorrendo em conjunto com várias características clínicas distintas, associadas a retardo mental. A forma sindrômica mais freqüente é a síndrome de Prader-Willi (PWS) caracterizada por hipotonia, dificuldade de sucção no período neonatal, atraso do desenvolvimento neuropsicomotor (DNPM), hiperfagia, obesidade, baixa estatura na adolescência, mãos e pés pequenos, hipogonadismo, dificuldade de aprendizado e distúrbios de comportamento. Estudamos 141 pacientes com obesidade e/ou hiperfagia, atraso no desenvolvimento neuropsicomotor e/ou dificuldade

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ANDRÉ, VALENTINA ISABELLA. "Improving the understanding of Shwachman-Diamond Syndrome." Doctoral thesis, Università degli Studi di Milano-Bicocca, 2012. http://hdl.handle.net/10281/29980.

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Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disorder with an incidence of 1 in 50.000 births. In 2001, the genetic defect of SDS was mapped to the centromeric region of chromosome 7 and in 2003 the defect was narrowed down to a single gene, which was named the Shwachman-Bodian-Diamond Syndrome (SBDS) gene. The mutations in the SBDS gene were identified in 90% of patients. Pancreatic exocrine insufficiency, bone marrow dysfunction with peripheral blood cytopenias, skeletal abnormalities, short stature and immune dysfunction characterize the disorder. Neutropenia plays a cruci

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Charalsawadi, Chariyawan. "Mosaicism for trisomy21: Utility of array-based technology for its detection and its influence on telomere length and the frequency of acquired chromosome abnormalities." VCU Scholars Compass, 2011. http://scholarscompass.vcu.edu/etd/2546.

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The primary aim of this study was to determine the effectiveness of array-based technology for detecting and quantifying the presence of mosaicism. This aim was achieved by studying individuals having mosaicism for Down syndrome. SNP arrays were performed on 13 samples from individuals with mosaicism for trisomy 21, 13 samples from individuals with normal chromosome 21complements (negative controls) and 5 samples from individuals with full or partial trisomy 21 (positive controls). In addition, BAC arrays were processed on 6 samples from individuals with mosaicism for trisomy 21, 3 negative co

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Eichenauer, Till S. [Verfasser], and Guido [Akademischer Betreuer] Sauter. "Identifizierung von neuen tumorrelevanten Genen : Eine genomweite Suche nach Onkogenen und Tumorsuppressorgenen bei 72 Prostatakarzinomen und 5 Zelllinien mit hochauflösender SNP-Array Technologie / Till S. Eichenauer. Betreuer: Guido Sauter." Hamburg : Staats- und Universitätsbibliothek Hamburg, 2013. http://d-nb.info/1033094870/34.

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Borman, Natalie. "Study to identify the associations between polymorphisms in pharmacogenetic loci, mycophenolic acid precursors (mofetil or sodium) and clinical outcomes in renal transplant recipients using array based exome SNP sequencing." Thesis, University of Southampton, 2014. https://eprints.soton.ac.uk/374655/.

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Halldórsdóttir, Anna Margrét. "Genetic and Epigenetic Profiling of Mantle Cell Lymphoma and Chronic Lymphocytic Leukemia." Doctoral thesis, Uppsala universitet, Hematologi och immunologi, 2011. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-156786.

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Mantle cell lymphoma (MCL) and chronic lymphocytic leukemia (CLL) both belong to the group of mature B-cell malignancies. However, MCL is typically clinically aggressive while the clinical course of CLL varies. CLL can be divided into prognostic subgroups based on IGHV mutational status and into multiple subsets based on closely homologous (stereotyped) B-cell receptors. In paper I we investigated 31 MCL cases using high-density 250K single-nucleotide polymorphism arrays and gene expression arrays. Although most copy-number aberrations (CNAs) were previously reported in MCL, a novel deletion w

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Divne, Anna-Maria. "Evaluation of New Technologies for Forensic DNA Analysis." Doctoral thesis, Uppsala : Acta Universitatis Upsaliensis : Univ.-bibl. [distributör], 2005. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-5744.

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Capizzi, Carmela. "Novel genomic technologies and molecular diagnostics in Colorectal Cancer." Doctoral thesis, Università di Catania, 2012. http://hdl.handle.net/10761/919.

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Cancer is a disease of the genome that is characterized by substantial variability in the clinical course and response to therapies. Colorectal cancer (CRC) is a heterogeneous cancer and represents an ideal model to investigate and elucidate the genetic alterations involved in tumor onset and progression. In this study 51 CRC patients were subdivided into groups according to the presence of microsatellite instability (MSI) and chromosomal instability (CIN). Of the 51 CRCs, 13.73% were MSI and 86.27% were microsatellite stable (MSS). The frequency of KRAS mutations in MSI-H and in MSS cancer wa

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

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

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

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Johansson, Martin M. "The Human Y chromosome and its role in the developing male nervous system." Doctoral thesis, Uppsala universitet, Institutionen för organismbiologi, 2015. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-261789.

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Recent research demonstrated that besides a role in sex determination and male fertility, the Y chromosome is involved in additional functions including prostate cancer, sex-specific effects on the brain and behaviour, graft-versus-host disease, nociception, aggression and autoimmune diseases. The results presented in this thesis include an analysis of sex-biased genes encoded on the X and Y chromosomes of rodents. Expression data from six different somatic tissues was analyzed and we found that the X chromosome is enriched in female biased genes and depleted of male biased ones. The second st

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Gladstein, Ariella. "Inference of Recent Demographic History of Population Isolates Using Genome-Wide High Density SNP Arrays and Whole Genome Sequences." Thesis, The University of Arizona, 2018. http://pqdtopen.proquest.com/#viewpdf?dispub=10839026.

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<p> In this dissertation I addressed the problem of SNP array bias when finding runs of ho- mozygosity. I demonstrated the pitfalls of using uninformed methods for finding runs of homozygosity and provide better alternatives, including a more reliable algorithm for identi- fying runs of homozygosity than the most commonly used program. I then provide a review of Ashkenazi population genetics. Next, I developed software to efficiently run millions of whole chromosome simulations, which is publicly available through GitHub, DockerHub, and on the CyVerse Discovery Environment. I applied my comput

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McDonnell, David C. "Optimal linear array heading in a directional noise field." Thesis, Monterey, Calif. : Springfield, Va. : Naval Postgraduate School ; Available from National Technical Information Service, 1992. http://edocs.nps.edu/npspubs/scholarly/theses/1992/Sep/92Sep_McDonnell.pdf.

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Li, Ke. "Sub-Lithographic Patterning of Ultra-Dense Graphene Nanoribbon Arrays." The Ohio State University, 2009. http://rave.ohiolink.edu/etdc/view?acc_num=osu1250545004.

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Gross, Arnd, Anke Tonjes, Peter Kovacs, et al. "Population-genetic comparison of the Sorbian isolate population in Germany with the German KORA population using genome-wide SNP arrays." BioMed Central, 2011. http://hdl.handle.net/10150/610390.

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BACKGROUND:The Sorbs are an ethnic minority in Germany with putative genetic isolation, making the population interesting for disease mapping. A sample of N = 977 Sorbs is currently analysed in several genome-wide meta-analyses. Since genetic differences between populations are a major confounding factor in genetic meta-analyses, we compare the Sorbs with the German outbred population of the KORA F3 study (N = 1644) and other publically available European HapMap populations by population genetic means. We also aim to separate effects of over-sampling of families in the Sorbs sample from effect

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

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Keren, Boris. "La déficience intellectuelle : du diagnostic en puces ADN à l'identification de gènes candidats." Phd thesis, Université René Descartes - Paris V, 2013. http://tel.archives-ouvertes.fr/tel-00918306.

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L'analyse chromosomique sur puce ADN (ACPA) tend à devenir le principal examen diagnostique dans la déficience intellectuelle (DI). Parmi les techniques d'ACPA, les puces SNP ont l'intérêt de pouvoir détecter les pertes d'hétérozygotie, et par conséquent d'identifier les isodisomies uniparentales (iUPD) et les zones d'identité liées à la consanguinité. Nous avons étudié une cohorte de 1 187 patients atteints de DI, dans un cadre diagnostique, sur puces SNP. Nous avons réalisé, par cette étude, 145 diagnostics (12%) dont 2 iUPD et 6 délétions n'incluant qu'un seul gène. De plus, nous avons déte

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Farnoud, Noushin. "Computational tools for CNV detection using probe-level analysis of Affymetrix SNP arrays : application to the study of CNVs in follicular lymphoma." Thesis, University of British Columbia, 2012. http://hdl.handle.net/2429/43034.

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Copy number variants (CNVs) account for both variations among normal individuals and pathogenic variations. The introduction of DNA microarrays had a significant impact on the resolution of detectable CNVs and yielded a new perspective on the submicroscopic CNVs. Oligonucleotide microarrays, such as Affymetrix SNP arrays, have been commonly used for genome-wide CNV analysis. Despite the improvements in the technology, a major concern of using microarrays is how a putative CNV is defined. A disadvantage of oligonucleotide arrays is the poor signal-to-noise ratio of the data that leads to consid

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Tsai, Yen-Chang. "Development of the phase synchronization circuit for wirelessly distributed digital phased array." Thesis, Monterey, California : Naval Postgraduate School, 2009. http://edocs.nps.edu/npspubs/scholarly/theses/2009/Sep/09Sep%5FTsai.pdf.

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Thesis (M.S. in Electronic Warfare Systems Engineering)--Naval Postgraduate School, September 2009.<br>Thesis Advisor(s): Jenn, David C. "September 2009." Description based on title screen as viewed on Novermber 5, 2009. Author(s) subject terms: Radar, Distributed array, Phased Array, Phase Synchronization, Digital Radar, Digital Beamforming (DBF), Wireless Beamforming, Wireless Network Sensor, Aperstructure, Opportunistic Array, LabVIEW, Ballistic Missile Defense (BMD), CG(X), DDG-1000, Network-Centric Warfare (NCW), UAV, Modulator, Demodulator, Filter, Transmit/ Receive (T/R) Module, Lea

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GEMMATI, Donato. "Realizzazione di un DNA-Array di varianti genetiche nelle lesioni croniche di origine vascolare." Doctoral thesis, Università degli studi di Ferrara, 2010. http://hdl.handle.net/11392/2389304.

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Objective Wound healing in venous leg ulcer (VLU) is a multi-step process involving complex pathways. Scanty knowledge at molecular level hinders clinical assessment and treatment. Anomalous handling of local iron overload, as well as unbalancing in MMPs and transglutaminase, has a recognized role in VLU establishment. We selected a number of single nucleotide polymorphisms (SNPs) in candidate genes (HFE, FPN1, MMP12, FXIII) involved in VLU to identify potentially prognostic markers by means of DNA-array technology. Methods and Results DNA-array-genotyping was assessed in 638 subjects fo

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Ahmed, Mamun. "Adaptive Sub band GSC Beam forming using Linear Microphone-Array for Noise Reduction/Speech Enhancement." Thesis, Blekinge Tekniska Högskola, Sektionen för ingenjörsvetenskap, 2012. http://urn.kb.se/resolve?urn=urn:nbn:se:bth-6174.

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This project presents the description, design and the implementation of a 4-channel microphone array that is an adaptive sub-band generalized side lobe canceller (GSC) beam former uses for video conferencing, hands-free telephony etc, in a noisy environment for speech enhancement as well as noise suppression. The side lobe canceller evaluated with both Least Mean Square (LMS) and Normalized Least Mean Square (NLMS) adaptation. A testing structure is presented; which involves a linear 4-microphone array connected to collect the data. Tests were done using one target signal source and one noise

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Arras, Michael [Verfasser]. "Generierung einer Biobank von Patienten mit Barrett-Karzinom und deren phänotypische Charakterisierung im Zuge einer genetischen Replikationsanalyse von 12 SNP-Markern auf Chromosom 15 und 16 / Michael Arras." Mainz : Universitätsbibliothek Mainz, 2020. http://d-nb.info/1212882571/34.

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Rivas, Andrew P. "Implementation of phased array antenna technology providing a wireless local area network to enhance port security and Maritime interdiction operations." Thesis, Monterey, California : Naval Postgraduate School, 2009. http://edocs.nps.edu/npspubs/scholarly/theses/2009/Sep/09Sep%5FRivas.pdf.

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Thesis (M.S. in Information Technology Management)--Naval Postgraduate School, September 2009.<br>Thesis Advisor(s): Ehlert, James ; Barreto, Albert. "September 2009." Description based on title screen as viewed on November 5, 2009. Author(s) subject terms: MIO, VBSS, electronically steered antenna, phased array antenna, wireless network connection, Wi-Fi, IEEE 802.11g, boarding team, COTS, WLAN, smart antenna, OpenVPN application, wireless base station, OFDM, latency, point-to-point wireless link. Includes bibliographical references (p. 81-82). Also available in print.

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Sayyah, Jahromi Mohammad Reza Information Technology &amp Electrical Engineering Australian Defence Force Academy UNSW. "Efficient broadband antenna array processing using the discrete fourier form transform." Awarded by:University of New South Wales - Australian Defence Force Academy. School of Information Technology and Electrical Engineering, 2005. http://handle.unsw.edu.au/1959.4/38690.

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Processing of broadband signals induced on an antenna array using a tapped delay line filter and a set of steering delays has two problems. Firstly one needs to manipulate large matrices to estimate the filter coefficients. Secondly the use of steering delays is not only cumbersome but implementation errors cause loss of system performance. This thesis looks at both of these problems and presents elegant solutions by developing and studying a design method referred to as the DFT method, which does not require steering delays and is computationally less demanding compared to existing methods.

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Baleshan, Tharunie. "Analysis of distributed beamforming in cooperative communications network with phase shifter based smart antenna nodes." Thesis, Queensland University of Technology, 2015. https://eprints.qut.edu.au/84539/1/Tharunie_Baleshan_Thesis.pdf.

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This research study investigates the application of phase shifter-based smart antenna system in distributed beamforming. It examines the way to optimise the transmit power by jointly maximising the directivity of the array antennas and the weight vector for distributed beamforming. This research study concludes that maximising directivity can lead to better transmit power minimisation compared to maximising field intensity. This study also concludes that signal to noise power ratio maximisation subject to a power constraint and power minimisation subject to a signal to noise power ratio constr

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Verdelli, D. "BIOLOGICAL AND MOLECULAR CHARACTERIZATION OF CMA-03/06, A NEWLY ESTABLISHED INTERLEUKIN-6 INDEPENDENT VARIANT OF THE CMA-03 HUMAN MYELOMA CELL LINE." Doctoral thesis, Università degli Studi di Milano, 2011. http://hdl.handle.net/2434/150553.

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The growth and survival of multiple myeloma (MM) cells in the bone marrow microenvironment is regulated by functional complex interactions between the tumor cells and the surrounding bone marrow stromal cells mediated by adhesion molecules and the production of several cytokines of which interleukin-6 (IL-6) has been identified as the most important. Major advances in the investigation of MM biology were made possible by the availability of human myeloma cell lines (HMCLs). The IL-6-dependent CMA-03 cell line was established in our laboratory from a peritoneal effusion of a refractory relapsed

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Anand, K. "Methods for Blind Separation of Co-Channel BPSK Signals Arriving at an Antenna Array and Their Performance Analysis." Thesis, Indian Institute of Science, 1995. https://etd.iisc.ac.in/handle/2005/123.

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Capacity improvement of Wireless Communication Systems is a very important area of current research. The goal is to increase the number of users supported by the system per unit bandwidth allotted. One important way of achieving this improvement is to use multiple antennas backed by intelligent signal processing. In this thesis, we present methods for blind separation of co-channel BPSK signals arriving at an antenna array. These methods consist of two parts, Constellation Estimation and Assignment. We give two methods for constellation estimation, the Smallest Distance Clustering and the Maxi

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