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 9 of 9 for “"Variant Effect"”.
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Systematically and proactively testing variant effects for AIRE and SOD1
… unable to determine the pathogenicity of rare variants in disease-associated genes. Under current guidelines, one of the strongest forms of evidence for variant annotation comes from (often cell-based) functional assays of variant impacts. One-at-a-time variant functional assays are the current …
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Computational Tools and Analyses for Improved Inference of Variant Effects
… With over 50% of clinically interpreted missense variants classified as “variants of uncertain significance” (VUSes), multiple approaches are needed to improve variant interpretation. Multiplexed assays of variant effect (MAVEs) can experimentally test nearly all possible missense variants in …
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Modelling fitness and stability of G protein-coupled receptor variants
… variety of diseases2. Protein-altering genetic variants have complex effects on the biophysical and functional properties of GPCRs. Understanding the biophysical and functional effects of protein-altering variants in GPCRs using computational variant effect prediction methods could help engineer …
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Protein structural and functional consequences of missense mutations in the human cancer genome
… high coverage. As these resources grow, new variants get incorporated into the pool and older variants get updated annotations, further refining the quality of the information stored. Sometimes, however, the sequenced variants are of unknown significance, and they cannot be interpreted …
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Modelling the structural, functional and phenotypic consequences of protein coding mutations
… the function of all extant organisms, meaning variants impacting them are a primary cause of phenotypic variation. Protein coding variants are a key area of study in biology, with relevance from structural and molecular biology to population genetics. They are also medically important, …
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Investigating the role of demography and selection in genome scale patterns of common and rare variant diversity in humans
… picture of the patterns of functional and rare variants worldwide high coverage WGS data from 483 individuals (including 379 novel genomes) were analysed. Ingenuity Variant Analysis and the Ensembl Variant Effect Predictor were applied to a subset of these genomes (n = 382) to create a …
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Dynamic Emission Baffle Inspired by Horseshoe Bat Noseleaves
… the current man-made sonar system are the time-variant shapes of the noseleaves. Noseleaves are baffles that surround the nostrils in bats with nasal pulse emission such as horseshoe bats and can undergo non-rigid deformations large enough to affect their acoustic properties significantly. …
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Probing PAX6-DNA interactions using high-throughput yeast one-hybrid assays and deep mutational scanning
… as causing aniridia, while most missense variants produce a broad range of other discrete ocular pathologies. The interplay between PAX6 and its DNA targets is complicated by multiple functionally distinct subdomains, co-factors, and divergent spectra of disease phenotypes. Knowledge of …
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Chemical selectivity principles of translocation catalysis by membrane transporters
Submission published under a 24 month embargo labeled 'Closed Access', the embargo will last until 2026-05-01