The increasing complexity of telecom networks, induced by the recent development of 5G, is a challenge for detecting faults in the telecom network. In addition to the structural complexity of telecommunication systems, data accessibility has become an issue both in terms of privacy and access cost. We propose a method relying on bi-level Federated Graph Neural Networks to identify anomalies in the telecom network while ensuring reduced communication costs as well as data privacy. Our method considers telecom data as a bi-level graph, where the highest level graph represents the interaction between sites, and each site is further expanded to its software (SW) performance behaviour graph. We developed and compared 4G/5G SW Fault Detection models under 3 settings: (1) Centralized Temporal Graph Neural Networks model: we propose a model to detect anomalies in 4G/5G telecom data. (2) Federated Temporal Graph Neural Networks model: we propose Federated Learning (FL) as a mechanism for privacy-aware training of models for fault detection. (3) Personalized Federated Temporal Graph Neural Networks model: we propose a novel aggregation technique, referred to as FedGraph, leveraging both a graph and the similarities between sites for aggregating the models and proposing models more personalized to each site’s behaviour. We compare the benefits of Federated Learning (FL) models (2) and (3) with centralized training (1) in terms of SW performance data modelling, anomaly detection, and communication cost. The evaluation includes both a scenario with normal functioning sites and a scenario where only a subset of sites exhibit faulty behaviour. The combination of SW execution graphs with GNNs has shown improved modelling performance and minor gains in centralized settings (1). In a normal network context, FL models (2) and (3) perform comparably to centralized training (CL), with slight improvements observed when using the personalized strategy (3). However, in abnormal network scenarios, Federated Learning falls short of achieving comparable detection performance to centralized training. This is due to the unintended learning of abnormal site behaviour, particularly when employing the personalized model (3). These findings highlight the importance of carefully assessing and selecting suitable FL strategies for anomaly detection and model training on telecom network data. / Den ökande komplexiteten i telenäten, som är en följd av den senaste utvecklingen av 5G, är en utmaning när det gäller att upptäcka fel i telenäten. Förutom den strukturella komplexiteten i telekommunikationssystem har datatillgänglighet blivit ett problem både när det gäller integritet och åtkomstkostnader. Vi föreslår en metod som bygger på Federated Graph Neural Networks på två nivåer för att identifiera avvikelser i telenätet och samtidigt säkerställa minskade kommunikationskostnader samt dataintegritet. Vår metod betraktar telekomdata som en graf på två nivåer, där grafen på den högsta nivån representerar interaktionen mellan webbplatser, och varje webbplats utvidgas ytterligare till sin graf för programvarans (SW) prestandabeteende. Vi utvecklade och jämförde 4G/5G SW-feldetekteringsmodeller under 3 inställningar: (1) Central Temporal Graph Neural Networks-modell: vi föreslår en modell för att upptäcka avvikelser i 4G/5G-telekomdata. (2) Federated Temporal Graph Neural Networks-modell: vi föreslår Federated Learning (FL) som en mekanism för integritetsmedveten utbildning av modeller för feldetektering. I motsats till centraliserad inlärning aggregeras lokalt tränade modeller på serversidan och skickas tillbaka till klienterna utan att data läcker ut mellan klienterna och servern, vilket säkerställer integritetsskyddande samarbetsutbildning. (3) Personaliserad Federated Temporal Graph Neural Networks-modell: vi föreslår en ny aggregeringsteknik, kallad FedGraph, som utnyttjar både en graf och likheterna mellan webbplatser för att aggregera modellerna. Vi jämför fördelarna med modellerna Federated Learning (FL) (2) och (3) med centraliserad utbildning (1) när det gäller datamodellering av SW-prestanda, anomalidetektering och kommunikationskostnader. Utvärderingen omfattar både ett scenario med normalt fungerande anläggningar och ett scenario där endast en delmängd av anläggningarna uppvisar felaktigt beteende. Kombinationen av SW-exekveringsgrafer med GNN har visat förbättrad modelleringsprestanda och mindre vinster i centraliserade inställningar (1). I en normal nätverkskontext presterar FL-modellerna (2) och (3) jämförbart med centraliserad träning (CL), med små förbättringar observerade när den personliga strategin används (3). I onormala nätverksscenarier kan Federated Learning dock inte uppnå jämförbar detekteringsprestanda med centraliserad träning. Detta beror på oavsiktlig inlärning av onormalt beteende på webbplatsen, särskilt när man använder den personliga modellen (3). Dessa resultat belyser vikten av att noggrant bedöma och välja lämpliga FL-strategier för anomalidetektering och modellträning på telekomnätdata.

Whole-exome and genome sequencing are widely used to diagnose individual patients. However, despite its success, this approach leaves many patients undiagnosed. This could be due to the need to discover more disease genes and variants or because disease phenotypes are novel and arise from a combination of variants of multiple known genes related to the disease. Recent rapid increases in available genomic, biomedical, and phenotypic data enable computational analyses, reducing the search space for disease-causing genes or variants and facilitating the prediction of causal variants. Therefore, artificial intelligence, data mining, machine learning, and deep learning are essential tools that have been used to identify biological interactions, including protein-protein interactions, gene-disease predictions, and variant--disease associations. Predicting these biological associations is a critical step in diagnosing patients with rare or complex diseases. In recent years, computational methods have emerged to improve gene-disease prioritization by incorporating phenotype information. These methods evaluate a patient's phenotype against a database of gene-phenotype associations to identify the closest match. However, inadequate knowledge of phenotypes linked with specific genes in humans and model organisms limits the effectiveness of the prediction. Information about gene product functions and anatomical locations of gene expression is accessible for many genes and can be associated with phenotypes through ontologies and machine-learning models. Incorporating this information can enhance gene-disease prioritization methods and more accurately identify potential disease-causing genes. This dissertation aims to address key limitations in gene-disease prediction and variant prioritization by developing computational methods that systematically relate human phenotypes that arise as a consequence of the loss or change of gene function to gene functions and anatomical and cellular locations of activity. To achieve this objective, this work focuses on crucial problems in the causative variant prioritization pipeline and presents novel computational methods that significantly improve prediction performance by leveraging large background knowledge data and integrating multiple techniques. Therefore, this dissertation presents novel approaches that utilize graph-based machine-learning techniques to leverage biomedical ontologies and linked biological data as background knowledge graphs. The methods employ representation learning with knowledge graphs and introduce generic models that address computational problems in gene-disease associations and variant prioritization. I demonstrate that my approach is capable of compensating for incomplete information in public databases and efficiently integrating with other biomedical data for similar prediction tasks. Moreover, my methods outperform other relevant approaches that rely on manually crafted features and laborious pre-processing. I systematically evaluate our methods and illustrate their potential applications for data analytics in biomedicine. Finally, I demonstrate how our prediction tools can be used in the clinic to assist geneticists in decision-making. In summary, this dissertation contributes to the development of more effective methods for predicting disease-causing variants and advancing precision medicine.