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 10 of 10 for “"de novo mutation"”.
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The origin and consequences of mutational processes in the human germline
Mutational processes in the germline tissue can generate heritable genetic variation and have the potential to shape disease risk as well as species evolution. In this dissertation, by leveraging data from multiple sources, I explored three mutational processes in the human germline, each having …
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Analisi molecolare in pazienti italiani con sindrome di Lowe
… also called OCRL1) is a rare X-linked disorder characterized by major abnormalities of eyes, nervous system, and kidneys. The gene responsible for OCRL encodes an inositol polyphosphate-5-phosphatase. We performed the molecular analysis in 20 Italian patients and we detected the mutations in …
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Empirical investigation of de novo mutations conferring herbicide resistance
… a predictable natural selection process, herbicides select for adaptive alleles that allow weed populations to survive. These resistance alleles may be available immediately from the standing genetic variation within the population, as well as, may immigrate via pollen or seeds from other …
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Next-generation sequencing (NGS) for human disease research
… 염기 서열 분석 비용과 밀접하게 영향이 있는 염기 서열 분석 심도(sequencing depth)의 영향을 확인하여 변이 발견에 적합한 심도를 분석하였다. 10명의 유방암 환자의 혈액 샘플을 채취하여 높은 심도의 엑솜 염기 서열 분석(exome sequencing)을 시행하여 결과 얻은 후, 높은 심도의 염기 서열 결과를 재편성하여 20×에서 200×까지 20×씩 순차적으로 심도가 증가하는 데이터를 생성하여 각각의 데이터에서 발견되는 변이들을 분석하였다. 분석 결과를 통하여 인간의 엑솜 영역에서 기능과 연관되어 있는 다양한 …
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Germline Mutation Detection In Next Generation Sequencing Data and Tp53 Mutation Carrier Probability Estimation For Li-Fraumeni Syndrome
… generation sequencing technology has been widely used in genomic analysis, but its application has been compromised by the missing true variants, especially when these variants are rare. We proposed a family-based variant calling method, FamSeq, integrating Mendelian transmission information …
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Identification and Characterization of De Novo Germline Tp53 Mutation Carriers In Families With Li-Fraumeni Syndrome
… is an inherited cancer syndrome caused by a deleterious mutation in TP53. An estimated 48% of LFS patients present due to a de novo mutation (DNM) in TP53. The knowledge of DNM status, DNM or familial mutation (FM), of an LFS patient requires genetic testing of both parents which is often …
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Exploring mechanisms of inhibition and inactivation in voltage-gated sodium channels using molecular simulations
… explores the use of molecular simulations to understand how the Nav channel interacts with modulatory molecules of interest, such as pore-inhibiting drugs and endogenous lipids, as well as how its dynamics are altered by specific mutations. Since majority of Nav channel inhibitors bind in the …
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Exploring mechanisms of inhibition and inactivation in voltage-gated sodium channels using molecular simulations
… explores the use of molecular simulations to understand how the Nav channel interacts with modulatory molecules of interest, such as pore-inhibiting drugs and endogenous lipids, as well as how its dynamics are altered by specific mutations. Since majority of Nav channel inhibitors bind in the …
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Understanding how deficits in sub- and higher- order cognitive processes impact problem-solving abilities in childhood
Fluid Intelligence describes the ability to solve complex problems under novel conditions and predicts success in a wide range of areas. The overarching aim of this thesis was to explore the cognitive processes necessary for the completion of complex cognitive tasks in children with and without …
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Causal inference in integrative genomics: exploring de novo mutations and unravelling causal mechanisms via gene regulatory networks in developmental process
Integrative genomics has revolutionised our understanding of complex biological processes by synergistically combining data from various omics technologies, including genomics, transcriptomics, and epigenomics. In this study, we first focused on integrating genomics and transcriptomics data to …