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 14 of 14 for “"functional interpretation"”.
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Functional interpretation of cancer-associated genetic variants
… integrated computational method for identifying functional regulatory variants associated with cancer and for revealing their precise gene-regulation role by combining analyses of heterogeneous high-throughput sequencing data. Application of the method to breast cancer susceptibility regions …
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Computational methods for functional interpretation of diverse omics data
… transcriptomic, proteomic, and metagenomic data. Functional interpretation of these data is key to elucidating the potential role of different molecular levels (e.g., genome, transcriptome, proteome, metagenome) in human health and disease. However, the massive size and heterogeneity of raw data …
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Distribuição e análise morfológica do gênero Leposternon Wagler, 1824 no Estado do Rio de Janeiro, Brasil (Reptilia, Amphisbaenia)
… of these last two species, aiming to give a functional interpretation for different characters, compared also with other species of Leposternon and other génera of Amphisbaenia, specially in relation to locomotion; some corporeal areas were identified as being subjected to distinct functional …
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Analyzing the complexity of bat flight to inspire the design of flapping-flight drones
… the maneuvering flight of bats. However, a functional interpretation will require complementary, e.g., aerodynamic metrics.
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Ricci Curvature of Noncommutative Three Tori, Entropy, and Second Quantization
… one also wants to get a good notion of an action functional which depends only on the spectrum of $D$, called spectral action functional. It is known that such a functional can be expressed as $textrm{Tr(f(D))}$ for some function $f$. In chapter 3, we show that the von Neumann entropy, average …
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A modular programming language for engineering design
… computation called MDPL that generalizes other functional models like the lambda calculus and combinatory logic. This model leads naturally to a new type of programming language that combines the key strengths of imperative and functional languages for development and analysis of programs. These …
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The Dialectica Models of Type Theory
… which semantically embody Gödel's Dialectica functional interpretation and its variants. This continues a programme initiated by von Glehn with the construction of the polynomial model of type theory. We complete the analogy between this model and Gödel's original Dialectica by using our …
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Molecular and clinical profiling of immune disease genetic loci
… non-coding regions of the genome, making their functional interpretation elusive. Recent large-scale functional genomic datasets like GTEx and eQTLGen have linked genetic variation to gene expression differences, but most studies have primarily focused on steady-state gene expression at the …
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Statistical and Relational Learning for Understanding Enzyme Function
… is proposed for directly predicting enzyme functional residues. This approach is shown to improve over the current state of the art on several benchmark datasets. The engineered predictors resulting from this investigation are now available to the public of researchers through the CatANalyst …
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Microelectrode Array Modeling of Genetic Neurological Disorders in the Era of Next Generation Sequencing
… the development of appropriate systems to functionally interpret variants and identify pathogenic mechanisms has lagged behind. Understanding pathogenic mechanisms is crucial to the development of targeted therapeutics. Therefore, the main challenge to translating genetic findings into …
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MUSCLE-SPECIFIC MECP2 MISEXPRESSION INDUCES SKELETAL AND VISCERAL MUSCLE DEFECTS RESCUED BY BUTYRATE SUPPLEMENTATION IN DROSOPHILA
… tissue maturation. We also employed the model to functionally classify MECP2 variants. Alleles were scored based on their ability to enhance or suppress wild-type MECP2 phenotypes. R106W suppressed lethality and caused mild muscle disruption, consistent with loss of function. Δ166 enhanced …
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Distribution of nematodes in pasture soil across seasons and in combination with plant species and fertiliser application
… animals, and highly diverse, taxonomically or functionally or both. They occupy multiple trophic positions in the soil food web and play a significant role in the decomposition of soil organic matter, the mineralisation of plant nutrients and nutrient cycling. The distribution of the nematode …
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Gene misexpression in humans
… short open reading frames (sORFs) as either functional or non-functional. To do so, I curated a database of 2,112 sORFs with and without experimental evidence of being functional from a variety of different experimental screening approaches. I created an extensive feature annotation pipeline …