1,963 research outputs found
Exploring missing heritability in neurodevelopmental disorders:Learning from regulatory elements
In this thesis, I aimed to solve part of the missing heritability in neurodevelopmental disorders, using computational approaches. Next to the investigations of a novel epilepsy syndrome and investigations aiming to elucidate the regulation of the gene involved, I investigated and prioritized genomic sequences that have implications in gene regulation during the developmental stages of human brain, with the goal to create an atlas of high confidence non-coding regulatory elements that future studies can assess for genetic variants in genetically unexplained individuals suffering from neurodevelopmental disorders that are of suspected genetic origin
Weather and climate data for energy applications
Weather information plays a critical role in energy applications — from designing and planning to the management and maintenance of building energy systems, renewable energy applications, and smart utility grids. This research examines weather and climate data for energy applications, covering their sources, generation, implementation, and forecasting. Drivers for the use of weather data, data acquisition methods, and parameter characteristics, as well as their impact on energy applications, are critically reviewed. The study also analyses weather data availability from 32 commonly used online sources, considering their cost, features, and resolution. A comprehensive weather data classification is developed based on measurement type, information period, data resolution, and time horizon. The findings indicate that real-time local weather data with high temporal resolution is crucial for optimal energy management and accurate forecasting of energy and environmental behaviours. However, limitations and uncertainties exist in weather data from online sources, particularly for developing countries, due to the limited spatio-temporal coverage
Dissecting structural and biochemical features of DNA methyltransferase 1
DNA methylation is an epigenetic modification found in every branch of life. An essential enzyme for the maintenance of DNA methylation patterns in mammals is DNA methyltransferase 1 (DNMT1). Its recruitment is regulated through its large N-terminus, which contains six annotated domains. Although most of these have been assigned a function, we are still lacking a holistic understanding of the enzyme's spatio-temporal regulation. Interestingly, a large segment of the N-terminus is devoid of any known domain and appears to be disordered in its sequence. Over the past years, such disordered sequences have increasingly gained attention, due to their role in forming biomolecular condensates through liquid-liquid phase separation (LLPS). These liquid compartments offer specific environmental conditions distinct from the surrounding that can enhance protein recruitment and function.
In this work, we explore a potential role for the intrinsically disordered domain (IDR) in the recruitment of DNMT1. Taking an evolutionary approach, we uncover that structural features of the region that are key for IDR function are highly conserved. Moreover, we find conserved biochemical signatures compatible with a role in LLPS. Using a reconstitution assay and an opto-genetic approach in cells, we for the first time show that the DNMT1 IDR is capable of undergoing LLPS in vitro and in vivo. In addition, we define a novel region of interest (ROI) of about 120 amino acids in the IDR that appears to have been inserted in the ancestor of eutherian mammals. Although the ROI has a distinct biochemical signature, we find no effect on the LLPS behavior of the IDR. Therefore, we discuss other potential roles of the ROI related to DNA methylation, for example, imprinting.
Finally, we lay the foundation for investigating a biological function of the IDR and establish a system for screening DNMT1 mutant phenotypes in mouse embryonic stem cells. Swift depletion of the endogenous protein is enabled by degron-mediated degradation, while our optimized construct design and efficient derivation strategy ensure the robust expression of the large transgenes. In combination with different methods for DNA methylation read-out, this system can now be used to study the role of the IDR and ROI in maintaining the steady-state level of DNA methylation against mechanisms of passive and active demethylation, but also for studying phenotypes affecting the efficiency of DNMT1 recruitment in the future
Analytical validation of innovative magneto-inertial outcomes: a controlled environment study.
peer reviewe
SPATIAL ANALYSES AND REMOTE SENSING FOR LAND COVER CHANGE DYNAMICS: ASSESSING IN A SPATIAL PLANNING
ABSTRACT (EN)
Spatial planning is a crucial discipline for the identification and implementation of sustainable development strategies that take into account the environmental impacts on the soil. In recent years, the significant development of technology, like remote sensing and GIS software, has significantly increased the understanding of environmental components, highlighting their peculiarities and criticalities. Geographically referenced information on environmental and socio-economic components represents a fundamental database for identifying and monitoring vulnerable areas, also distinguishing different levels of vulnerability.
This is even more relevant considering the increasingly significant impact of land transformation processes, consisting of rapid and frequent changes in land use patterns. In order to achieve some of the Sustainable Development Goals of the 2030 Agenda, the role of environmental planning is crucial in addressing spatial problems, such as agricultural land abandonment and land take, which cause negative impacts on
ecosystems. Remote sensing, and in general all Earth Observation techniques, play a key role in achieving SDG 11.3 and 15.3 of Agenda 2030. Through a series of applications and investigations in different areas of Basilicata, it has been demonstrated how the extensive use of remote sensing and spatial analysis in a GIS environment provide a substantial contribution to the results of the SDGs, enabling an informed decisionmaking process and enabling monitoring of the results expected, ensuring data reliability and directly contributing to the calculation of SDG objectives and indicators by facilitating local administrations approaches to work in different development and sustainability sectors. In this thesis have been analyse the dynamics of land transformation in terms of land take and soil erosion in sample areas of the Basilicata Region, which represents an interesting case example for the study of land use land cover change (LULCC).
The socio-demographic evolutionary trends and the study of marginality and territorial fragility are fundamental aspects in the context of territorial planning, since they are important drivers of the LULCC and territorial transformation processes. In fact, in Basilicata, settlement dynamics over the years have occurred in an uncontrolled and unregulated manner, leading to a constant consumption of land not accompanied by
adequate demographic and economic growth. To better understand the evolution and dynamics of the LULCCs and provide useful tools for formulating territorial planning policies and strategies aimed at a sustainable use of the territory, the socio-economic aspects of the Region were investigated. A first phase involved the creation of a database and the study and identification of essential services in the area as a
fundamental parameter against which to evaluate the quality of life in a specific area. The supply of essential services can be understood as an assessment of the lack of minimum requirements with reference to the urban functions exercised by each territorial unit. From a territorial point of view, the level of peripherality of the territories with respect to the network of urban centres profoundly influences the quality of life of
citizens and the level of social inclusion. In these, the presence of essential services can act as an attractor capable of generating discrete catchment areas. The purpose of this first part of the work was above all to create a dataset of data useful for the calculation of various socio-economic indicators, in order to frame the demographic evolution and the evolution of the stock of public and private services. The first methodological
approach was to reconstruct the offer of essential services through the use of open data in a GIS environment and subsequently estimate the peripherality of each municipality by estimating the accessibility to essential services. The study envisaged the use of territorial analysis techniques aimed at describing the distribution of essential services on the regional territory. It is essential to understand the role of demographic dynamics
as a driver of urban land use change such as, for example, the increase in demand for artificial surfaces that occurs locally. Social and economic analyses are important in the spatial planning process. Comparison of socio-economic analyses with land use and land cover change can highlight the need to modify existing policies or implement new ones. A particular land use can degrade and thereby destroy other land resources.
If the economic analysis shows that the use is beneficial from the point of view of the land user, it is likely to continue, regardless of whether the process is environmentally friendly. It is important to understand and investigate which drivers have been and will be in the future the most decisive in these dynamics that intrinsically contribute to land take, agricultural abandonment and the consequent processes of land degradation and to define policies or thresholds to mitigate and monitor the effects of these processes.
Subsequently, the issues of land take and abandonment of agricultural land were analysed by applying models and techniques of remote sensing, GIS and territorial analysis for the identification and monitoring of abandoned agricultural areas and sealed areas. The classic remote sensing methods have also been integrated by some geostatistical analyses which have provided more information on the investigated phenomenon. The aim was the creation of a quick methodology that would allow to describe the monitoring and analysis activities of the development trends of soil consumption and the monitoring and identification of degraded areas. The first methodology proposed allowed the automatic and rapid detection of detailed
LULCC and Land Take maps with an overall accuracy of more than 90%, reducing costs and processing times.
The identification of abandoned agricultural areas in degradation is among the most complicated LULCC and Land Degradation processes to identify and monitor as it is driven by a multiplicity of anthropic and natural factors. The model used to estimate soil erosion as a degradation phenomenon is the Revised Universal Soil Loss Equation (RUSLE). To identify potentially degraded areas, two factors of the RUSLE have been correlated: Factor C which describes the vegetation cover of the soil and Factor A which represents the amount of potential soil erosion. Through statistical correlation analysis with the RUSLE factors, on the basis of the deviations from the average RUSLE values and mapping of the areas of vegetation degradation, relating to arable land, through statistical correlation with the vegetation factor C, the areas were identified and mapped
that are susceptible to soil degradation. The results obtained allowed the creation of a database and a map of the degraded areas to be paid attention to
Beam scanning by liquid-crystal biasing in a modified SIW structure
A fixed-frequency beam-scanning 1D antenna based on Liquid Crystals (LCs) is designed for application in 2D scanning with lateral alignment. The 2D array environment imposes full decoupling of adjacent 1D antennas, which often conflicts with the LC requirement of DC biasing: the proposed design accommodates both. The LC medium is placed inside a Substrate Integrated Waveguide (SIW) modified to work as a Groove Gap Waveguide, with radiating slots etched on the upper broad wall, that radiates as a Leaky-Wave Antenna (LWA). This allows effective application of the DC bias voltage needed for tuning the LCs. At the same time, the RF field remains laterally confined, enabling the possibility to lay several antennas in parallel and achieve 2D beam scanning. The design is validated by simulation employing the actual properties of a commercial LC medium
Analog Photonics Computing for Information Processing, Inference and Optimisation
This review presents an overview of the current state-of-the-art in photonics
computing, which leverages photons, photons coupled with matter, and
optics-related technologies for effective and efficient computational purposes.
It covers the history and development of photonics computing and modern
analogue computing platforms and architectures, focusing on optimization tasks
and neural network implementations. The authors examine special-purpose
optimizers, mathematical descriptions of photonics optimizers, and their
various interconnections. Disparate applications are discussed, including
direct encoding, logistics, finance, phase retrieval, machine learning, neural
networks, probabilistic graphical models, and image processing, among many
others. The main directions of technological advancement and associated
challenges in photonics computing are explored, along with an assessment of its
efficiency. Finally, the paper discusses prospects and the field of optical
quantum computing, providing insights into the potential applications of this
technology.Comment: Invited submission by Journal of Advanced Quantum Technologies;
accepted version 5/06/202
Adaptive vehicular networking with Deep Learning
Vehicular networks have been identified as a key enabler for future smart traffic applications aiming to improve on-road safety, increase road traffic efficiency, or provide advanced infotainment services to improve on-board comfort. However, the requirements of smart traffic applications also place demands on vehicular networks’ quality in terms of high data rates, low latency, and reliability, while simultaneously meeting the challenges of sustainability, green network development goals and energy efficiency. The advances in vehicular communication technologies combined with the peculiar characteristics of vehicular networks have brought challenges to traditional networking solutions designed around fixed parameters using complex mathematical optimisation. These challenges necessitate greater intelligence to be embedded in vehicular networks to realise adaptive network optimisation. As such, one promising solution is the use of Machine Learning (ML) algorithms to extract hidden patterns from collected data thus formulating adaptive network optimisation solutions with strong generalisation capabilities.
In this thesis, an overview of the underlying technologies, applications, and characteristics of vehicular networks is presented, followed by the motivation of using ML and a general introduction of ML background. Additionally, a literature review of ML applications in vehicular networks is also presented drawing on the state-of-the-art of ML technology adoption. Three key challenging research topics have been identified centred around network optimisation and ML deployment aspects.
The first research question and contribution focus on mobile Handover (HO) optimisation as vehicles pass between base stations; a Deep Reinforcement Learning (DRL) handover algorithm is proposed and evaluated against the currently deployed method. Simulation results suggest that the proposed algorithm can guarantee optimal HO decision in a realistic simulation setup.
The second contribution explores distributed radio resource management optimisation. Two versions of a Federated Learning (FL) enhanced DRL algorithm are proposed and evaluated against other state-of-the-art ML solutions. Simulation results suggest that the proposed solution outperformed other benchmarks in overall resource utilisation efficiency, especially in generalisation scenarios.
The third contribution looks at energy efficiency optimisation on the network side considering a backdrop of sustainability and green networking. A cell switching algorithm was developed based on a Graph Neural Network (GNN) model and the proposed energy efficiency scheme is able to achieve almost 95% of the metric normalised energy efficiency compared against the “ideal” optimal energy efficiency benchmark and is capable of being applied in many more general network configurations compared with the state-of-the-art ML benchmark
Towards addressing training data scarcity challenge in emerging radio access networks: a survey and framework
The future of cellular networks is contingent on artificial intelligence (AI) based automation, particularly for radio access network (RAN) operation, optimization, and troubleshooting. To achieve such zero-touch automation, a myriad of AI-based solutions are being proposed in literature to leverage AI for modeling and optimizing network behavior to achieve the zero-touch automation goal. However, to work reliably, AI based automation, requires a deluge of training data. Consequently, the success of the proposed AI solutions is limited by a fundamental challenge faced by cellular network research community: scarcity of the training data. In this paper, we present an extensive review of classic and emerging techniques to address this challenge. We first identify the common data types in RAN and their known use-cases. We then present a taxonomized survey of techniques used in literature to address training data scarcity for various data types. This is followed by a framework to address the training data scarcity. The proposed framework builds on available information and combination of techniques including interpolation, domain-knowledge based, generative adversarial neural networks, transfer learning, autoencoders, fewshot learning, simulators and testbeds. Potential new techniques to enrich scarce data in cellular networks are also proposed, such as by matrix completion theory, and domain knowledge-based techniques leveraging different types of network geometries and network parameters. In addition, an overview of state-of-the art simulators and testbeds is also presented to make readers aware of current and emerging platforms to access real data in order to overcome the data scarcity challenge. The extensive survey of training data scarcity addressing techniques combined with proposed framework to select a suitable technique for given type of data, can assist researchers and network operators in choosing the appropriate methods to overcome the data scarcity challenge in leveraging AI to radio access network automation
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