Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 8 of 8 for “"sequence variant"”.
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Extracellular matrix gene sequence variant analyses and Achilles tendinopathy
The primary aim of this thesis was to identify additional genetic elements predisposing individuals to risk of AT using a candidate gene, case-control genetic association approach, and to propose the biological mechanisms underlying this genetic risk. Candidate genes (COMP, THBS2, COL27A1, TNC, …
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Búsqueda de mutaciones en el gen foxo4 en pacientes con falla ovárica prematura no-sindrómica
… ovarian failure (POF) pathogenesis. This study sequenced the coding and exon-flanking regions of this gene in a panel of 116 POF patients and 143 controls of Tunisian origin. In both groups, the IVS2 + 41T > G sequence variant was identified. It is concluded that coding mutations of FOXO4 should …
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Functional analysis of A 5' untranslated variant in rhodopsin : implications for the retinitis pigmentosa phenotype
… have been identified as a major cause of RP. A sequence variant identified in the 5' untranslated region of RHO, g.269A>G, also known as c.-26A>G, was proposed to increase the risk of developing RP. In this study, the functional effect of this variant, individually and in cis with known …
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Bioinformatics pipeline development for analyses of data generated by target capture-based Next-Generation Sequencing, to characterise mutations and the utility of using off-target sequences to detect genomic imbalances in Multiple Myeloma patients.
… methods, especially regarding structural variant (SV)/copy number alteration (CNA) detection. This study aimed to exemplify target-capture Next-Generation Sequencing data utility in bioinformatics-mediated sequence variant/SV/CNA detection, using a 1,138-gene cancer gene panel …
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Genomic characterization and comparative analysis of the Xce candidate region
… further, we then compared copy number and sequence variant differences among strains carrying different Xce alleles to identify candidate variants in a subportion of the interval that correlate with specific Xce alleles. </p><p>The Xce candidate region was then compared to the corresponding …
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Measuring and modeling the effects of temperature on the amphibian chytrid fungus and assessing amphibian skin bacterial communities
… diversity, Shannon diversity, and amplicon sequence variant (ASV) richness. Bacterial communities between the three different adult frogs species were not different. Additionally, infected frogs did not have significantly different bacterial communities than uninfected frogs. In Chapter 3, I …
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Intrinsic and extrinsic factors associated with range of motion (ROM) with an emphasis on a novel genetic factor
… joint hypermobility. Furthermore, a COL5A1 gene sequence variant, the BstUI Restriction Fragment Length Polymorphism (RFLP), has previously been shown to be associated with ROM measurements in a cohort containing individuals with a history of Achilles tendon injuries. Objectives: The aim of this …
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Next-generation sequencing (NGS) for human disease research
차세대 염기 서열 분석법(Next-generation sequencing)은 DNA 유전 정보를 읽어내는 기술을 자동화한 1세대 생어(Sanger) 방식에서 대량의 병렬 데이터 생산이 가능하게 진화한 차세대 염기 서열 분석기가 생산한 데이터를 분석하는 기법을 의미한다. 2007년, 차세대 염기 서열 분석법의 등장은 무어의 법칙(Moore's law)을 능가하는 속도로 염기 서열 분석 비용을 감속시키고 있으며 곧 한 사람의 염기 서열 분석이 $1,000에 가능하게 되리라는 것이 명확해졌다. 차세대 염기 서열 분석법은 정착 단계를 …