Applying machine learning: a multi-role perspective

Machine (and deep) learning technologies are more and more present in several fields. It is undeniable that many aspects of our society are empowered by such technologies: web searches, content filtering on social networks, recommendations on e-commerce websites, mobile applications, etc., in addition to academic research. Moreover, mobile devices and internet sites, e.g., social networks, support the collection and sharing of information in real time. The pervasive deployment of the aforementioned technological instruments, both hardware and software, has led to the production of huge amounts of data. Such data has become more and more unmanageable, posing challenges to conventional computing platforms, and paving the way to the development and widespread use of the machine and deep learning. Nevertheless, machine learning is not only a technology. Given a task, machine learning is a way of proceeding (a way of thinking), and as such can be approached from different perspectives (points of view). This, in particular, will be the focus of this research. The entire work concentrates on machine learning, starting from different sources of data, e.g., signals and images, applied to different domains, e.g., Sport Science and Social History, and analyzed from different perspectives: from a non-data scientist point of view through tools and platforms; setting a problem stage from scratch; implementing an effective application for classification tasks; improving user interface experience through Data Visualization and eXtended Reality. In essence, not only in a quantitative task, not only in a scientific environment, and not only from a data-scientist perspective, machine (and deep) learning can do the difference.

Development of machine learning methods for multi-modal biomarkers detection and integration

In medicine, innovation depends on a better knowledge of the human body mechanism, which represents a complex system of multi-scale constituents. Unraveling the complexity underneath diseases proves to be challenging. A deep understanding of the inner workings comes with dealing with many heterogeneous information. Exploring the molecular status and the organization of genes, proteins, metabolites provides insights on what is driving a disease, from aggressiveness to curability. Molecular constituents, however, are only the building blocks of the human body and cannot currently tell the whole story of diseases. This is why nowadays attention is growing towards the contemporary exploitation of multi-scale information. Holistic methods are then drawing interest to address the problem of integrating heterogeneous data. The heterogeneity may derive from the diversity across data types and from the diversity within diseases. Here, four studies conducted data integration using customly designed workflows that implement novel methods and views to tackle the heterogeneous characterization of diseases. The first study devoted to determine shared gene regulatory signatures for onco-hematology and it showed partial co-regulation across blood-related diseases. The second study focused on Acute Myeloid Leukemia and refined the unsupervised integration of genomic alterations, which turned out to better resemble clinical practice. In the third study, network integration for artherosclerosis demonstrated, as a proof of concept, the impact of network intelligibility when it comes to model heterogeneous data, which showed to accelerate the identification of new potential pharmaceutical targets. Lastly, the fourth study introduced a new method to integrate multiple data types in a unique latent heterogeneous-representation that facilitated the selection of important data types to predict the tumour stage of invasive ductal carcinoma. The results of these four studies laid the groundwork to ease the detection of new biomarkers ultimately beneficial to medical practice and to the ever-growing field of Personalized Medicine.

Data surveillance for infectious diseases: models, complex networks and machine learning

In this thesis, we investigate the role of applied physics in epidemiological surveillance through the application of mathematical models, network science and machine learning. The spread of a communicable disease depends on many biological, social, and health factors. The large masses of data available make it possible, on the one hand, to monitor the evolution and spread of pathogenic organisms; on the other hand, to study the behavior of people, their opinions and habits. Presented here are three lines of research in which an attempt was made to solve real epidemiological problems through data analysis and the use of statistical and mathematical models. In Chapter 1, we applied language-inspired Deep Learning models to transform influenza protein sequences into vectors encoding their information content. We then attempted to reconstruct the antigenic properties of different viral strains using regression models and to identify the mutations responsible for vaccine escape. In Chapter 2, we constructed a compartmental model to describe the spread of a bacterium within a hospital ward. The model was informed and validated on time series of clinical measurements, and a sensitivity analysis was used to assess the impact of different control measures. Finally (Chapter 3) we reconstructed the network of retweets among COVID-19 themed Twitter users in the early months of the SARS-CoV-2 pandemic. By means of community detection algorithms and centrality measures, we characterized users’ attention shifts in the network, showing that scientific communities, initially the most retweeted, lost influence over time to national political communities. In the Conclusion, we highlighted the importance of the work done in light of the main contemporary challenges for epidemiological surveillance. In particular, we present reflections on the importance of nowcasting and forecasting, the relationship between data and scientific research, and the need to unite the different scales of epidemiological surveillance.

Advancing digital healthcare research and machine learning-aided knowledge extraction amidst the COVID-19 pandemic

The rapid progression of biomedical research coupled with the explosion of scientific literature has generated an exigent need for efficient and reliable systems of knowledge extraction. This dissertation contends with this challenge through a concentrated investigation of digital health, Artificial Intelligence, and specifically Machine Learning and Natural Language Processing's (NLP) potential to expedite systematic literature reviews and refine the knowledge extraction process. The surge of COVID-19 complicated the efforts of scientists, policymakers, and medical professionals in identifying pertinent articles and assessing their scientific validity. This thesis presents a substantial solution in the form of the COKE Project, an initiative that interlaces machine reading with the rigorous protocols of Evidence-Based Medicine to streamline knowledge extraction. In the framework of the COKE (“COVID-19 Knowledge Extraction framework for next-generation discovery science”) Project, this thesis aims to underscore the capacity of machine reading to create knowledge graphs from scientific texts. The project is remarkable for its innovative use of NLP techniques such as a BERT + bi-LSTM language model. This combination is employed to detect and categorize elements within medical abstracts, thereby enhancing the systematic literature review process. The COKE project's outcomes show that NLP, when used in a judiciously structured manner, can significantly reduce the time and effort required to produce medical guidelines. These findings are particularly salient during times of medical emergency, like the COVID-19 pandemic, when quick and accurate research results are critical.

Network analysis and machine learning assist drug repurposing and safety assessment in neurological diseases

In recent decades, two prominent trends have influenced the data modeling field, namely network analysis and machine learning. This thesis explores the practical applications of these techniques within the domain of drug research, unveiling their multifaceted potential for advancing our comprehension of complex biological systems. The research undertaken during this PhD program is situated at the intersection of network theory, computational methods, and drug research. Across six projects presented herein, there is a gradual increase in model complexity. These projects traverse a diverse range of topics, with a specific emphasis on drug repurposing and safety in the context of neurological diseases. The aim of these projects is to leverage existing biomedical knowledge to develop innovative approaches that bolster drug research. The investigations have produced practical solutions, not only providing insights into the intricacies of biological systems, but also allowing the creation of valuable tools for their analysis. In short, the achievements are: • A novel computational algorithm to identify adverse events specific to fixed-dose drug combinations. • A web application that tracks the clinical drug research response to SARS-CoV-2. • A Python package for differential gene expression analysis and the identification of key regulatory "switch genes". • The identification of pivotal events causing drug-induced impulse control disorders linked to specific medications. • An automated pipeline for discovering potential drug repurposing opportunities. • The creation of a comprehensive knowledge graph and development of a graph machine learning model for predictions. Collectively, these projects illustrate diverse applications of data science and network-based methodologies, highlighting the profound impact they can have in supporting drug research activities.

Developing a radiomic based machine learning model to identify patients with resected non-small-cell lung cancer at high risk of relapse

Background There is a wide variation of recurrence risk of Non-small-cell lung cancer (NSCLC) within the same Tumor Node Metastasis (TNM) stage, suggesting that other parameters are involved in determining this probability. Radiomics allows extraction of quantitative information from images that can be used for clinical purposes. The primary objective of this study is to develop a radiomic prognostic model that predicts a 3 year disease free-survival (DFS) of resected Early Stage (ES) NSCLC patients. Material and Methods 56 pre-surgery non contrast Computed Tomography (CT) scans were retrieved from the PACS of our institution and anonymized. Then they were automatically segmented with an open access deep learning pipeline and reviewed by an experienced radiologist to obtain 3D masks of the NSCLC. Images and masks underwent to resampling normalization and discretization. From the masks hundreds Radiomic Features (RF) were extracted using Py-Radiomics. Hence, RF were reduced to select the most representative features. The remaining RF were used in combination with Clinical parameters to build a DFS prediction model using Leave-one-out cross-validation (LOOCV) with Random Forest. Results and Conclusion A poor agreement between the radiologist and the automatic segmentation algorithm (DICE score of 0.37) was found. Therefore, another experienced radiologist manually segmented the lesions and only stable and reproducible RF were kept. 50 RF demonstrated a high correlation with the DFS but only one was confirmed when clinicopathological covariates were added: Busyness a Neighbouring Gray Tone Difference Matrix (HR 9.610). 16 clinical variables (which comprised TNM) were used to build the LOOCV model demonstrating a higher Area Under the Curve (AUC) when RF were included in the analysis (0.67 vs 0.60) but the difference was not statistically significant (p=0,5147).

Sviluppo di un’app mobile con Realtà Aumentata e Machine Learning in contesto di biodiversità

Il volume di tesi ha riguardato lo sviluppo di un'applicazione mobile che sfrutta la Realtà Aumentata e il Machine Learning nel contesto della biodiversità. Nello specifico si è realizzato un modello di AI che permetta la classificazione di immagini di fiori. Tale modello è stato poi integrato in Android, al fine della realizzazione di un'app che riesca a riconoscere specifiche specie di fiori, oltre a individuare gli insetti impollinatori attratti da essi e rappresentarli in Realtà Aumentata.

Machine learning techniques for heavy-flavour baryon production measurements at the LHC

Il quark-gluon plasma (QGP) è uno stato della materia previsto dalla cromodinamica quantistica. L’esperimento ALICE a LHC ha tra i suoi obbiettivi principali lo studio della materia fortemente interagente e le proprietà del QGP attraverso collisioni di ioni pesanti ultra-relativistici. Per un’esaustiva comprensione di tali proprietà, le stesse misure effettuate su sistemi collidenti più piccoli (collisioni protone-protone e protone-ione) sono necessarie come riferimento. Le recenti analisi dei dati raccolti ad ALICE hanno mostrato che la nostra comprensione dei meccanismi di adronizzazione di quark pesanti non è completa, perchè i dati ottenuti in collisioni pp e p-Pb non sono riproducibili utilizzando modelli basati sui risultati ottenuti con collisioni e+e− ed ep. Per questo motivo, nuovi modelli teorici e fenomenologici, in grado di riprodurre le misure sperimentali, sono stati proposti. Gli errori associati a queste nuove misure sperimentali al momento non permettono di verificare in maniera chiara la veridicità dei diversi modelli proposti. Nei prossimi anni sarà quindi fondamentale aumentare la precisione di tali misure sperimentali; d’altra parte, stimare il numero delle diverse specie di particelle prodotte in una collisione può essere estremamente complicato. In questa tesi, il numero di barioni Lc prodotti in un campione di dati è stato ottenuto utilizzando delle tecniche di machine learning, in grado di apprendere pattern e imparare a distinguere candidate di segnale da quelle di fondo. Si sono inoltre confrontate tre diverse implementazioni di un algoritmo di Boosted Decision Trees (BDT) e si è utilizzata quella più performante per ricostruire il barione Lc in collisioni pp raccolte dall’esperimento ALICE.

Machine learning "as a service" for high energy physics (MLaaS4HEP): evolution of a framework for ML-based physics analyses

The scientific success of the LHC experiments at CERN highly depends on the availability of computing resources which efficiently store, process, and analyse the amount of data collected every year. This is ensured by the Worldwide LHC Computing Grid infrastructure that connect computing centres distributed all over the world with high performance network. LHC has an ambitious experimental program for the coming years, which includes large investments and improvements both for the hardware of the detectors and for the software and computing systems, in order to deal with the huge increase in the event rate expected from the High Luminosity LHC (HL-LHC) phase and consequently with the huge amount of data that will be produced. Since few years the role of Artificial Intelligence has become relevant in the High Energy Physics (HEP) world. Machine Learning (ML) and Deep Learning algorithms have been successfully used in many areas of HEP, like online and offline reconstruction programs, detector simulation, object reconstruction, identification, Monte Carlo generation, and surely they will be crucial in the HL-LHC phase. This thesis aims at contributing to a CMS R&D project, regarding a ML "as a Service" solution for HEP needs (MLaaS4HEP). It consists in a data-service able to perform an entire ML pipeline (in terms of reading data, processing data, training ML models, serving predictions) in a completely model-agnostic fashion, directly using ROOT files of arbitrary size from local or distributed data sources. This framework has been updated adding new features in the data preprocessing phase, allowing more flexibility to the user. Since the MLaaS4HEP framework is experiment agnostic, the ATLAS Higgs Boson ML challenge has been chosen as physics use case, with the aim to test MLaaS4HEP and the contribution done with this work.

Machine learning per la previsione sui prezzi delle case

Negli ultimi anni, a causa della crescente tendenza verso i Big Data, l’apprendimento automatico è diventato un approccio di previsione fondamentale perché può prevedere i prezzi delle case in modo accurato in base agli attributi delle abitazioni. In questo elaborato, verranno messe in pratica alcune tecniche di machine learning con l’obiettivo di effettuare previsioni sui prezzi delle abitazioni. Ad esempio, si può pensare all’acquisto di una nuova casa, saranno tanti i fattori di cui si dovrà preoccuparsi, la posizione, i metri quadrati, l’inquinamento dell’aria, il numero di stanze, il numero dei bagni e così via. Tutti questi fattori possono influire in modo più o meno pesante sul prezzo di quell’abitazione. E’ proprio in casi come questi che può essere applicata l’intelligenza artificiale, nello specifico il machine learning, per riuscire a trovare un modello che approssimi nel miglior modo un prezzo, data una serie di caratteristiche. In questa tesi verrà dimostrato come è possibile utilizzare l’apprendimento automatico per effettuare delle stime il più preciso possibile dei prezzi delle case. La tesi è divisa in 5 capitoli, nel primo capitolo verranno introdotti i concetti di base su cui si basa l’elaborato e alcune spiegazioni dei singoli modelli. Nel secondo capitolo, invece, viene trattato l’ambiente di lavoro utilizzato, il linguaggio e le relative librerie utilizzate. Il terzo capitolo contiene un’analisi esplorativa sul dataset utilizzato e vengono effettuate delle operazioni per preparare i dati agli algoritmi che verranno applicati in seguito. Nel capitolo 4 vengono creati i diversi modelli ed effettuate le previsioni sui prezzi mentre nel capitolo 5 vengono analizzati i risultati ottenuti e riportate le conclusioni.

Machine Learning in ambito assicurativo Un caso di studio

Il Machine Learning si sta rivelando una tecnologia dalle incredibili potenzialità nei settori più disparati. Le diverse tecniche e gli algoritmi che vi fanno capo abilitano analisi dei dati molto più efficaci rispetto al passato. Anche l’industria assicurativa sta sperimentando l’adozione di soluzioni di Machine Learning e diverse sono le direzioni di innovamento che ne stanno conseguendo, dall’efficientamento dei processi interni all’offerta di prodotti rispondenti in maniera adattiva alle esigenze del cliente. Questo lavoro di tesi è stato realizzato durante un tirocinio presso Unisalute S.p.A., la prima assicurazione in ambito sanitario in Italia. La criticità intercettata è stata la sovrastima del capitale da destinare a riserva a fronte dell’impegno nei confronti dell’assicurato: questo capitale immobilizzato va a sottrarre risorse ad investimenti più proficui nel medio e lungo termine, per cui è di valore stimarlo appropriatamente. All'interno del settore IT di Unisalute, ho lavorato alla progettazione e implementazione di un modello di Machine Learning che riesca a prevedere se un sinistro appena preso in gestione sarà liquidato o meno. Dotare gli uffici impegnati nella determinazione del riservato di questa stima aggiuntiva basata sui dati, sarebbe di notevole supporto. La progettazione del modello di Machine Learning si è articolata in una Data Pipeline contenente le metodologie più efficienti con riferimento al preprocessamento e alla modellazione dei dati. L’implementazione ha visto Python come linguaggio di programmazione; il dataset, ottenuto a seguito di estrazioni e integrazioni a partire da diversi database Oracle, presenta una cardinalità di oltre 4 milioni di istanze caratterizzate da 32 variabili. A valle del tuning degli iperparamentri e dei vari addestramenti, si è raggiunta un’accuratezza dell’86% che, nel dominio di specie, è ritenuta più che soddisfacente e sono emersi contributi non noti alla liquidabilità dei sinistri.

Texting and Driving: rilevazione di utilizzo dello smartphone alla guida tramite Object Detection e Machine Learning

Questa tesi si ispira a lavori precedentemente portati avanti da altri studenti e si pone il problema della possibilit\`a di riconoscere se uno smartphone \`e utilizzato da un utente mentre esso si trova alla guida di un'autovettura. In essa verranno presentati vari metodi per risolvere questo problema di Machine Learning, ovvero realizzazione di dataset per l'allenamento di modelli e creazione e allenamento di modelli stessi, dediti al riconoscimento di un problema di classificazione binaria e riconoscimento di oggetti tramite Object Detection. Il cercare di riconoscere se l'utente \`e alla guida o meno, avverr\`a tramite l'output della fotocamera frontale dello smartphone, quindi lavoreremo su immagini, video e frame. Arriveremo a riconoscere la posizione della persona rappresentata da questi fotogrammi tramite un modello di Object Detection, che riconosce cintura e finestrino e determina se sono appartenenti al sedile e alla posizione del conducente o del passeggero. Vedremo alla fine, attraverso un'attenta analisi dei risultati ottenuti su ben 8 video diversi che saranno divisi in molti frame, che si ottengono risultati molto interessanti, dai quali si pu\`o prendere spunto per la creazione di un importante sistema di sicurezza alla guida.

Patent translation with CAT tools and Machine Translation

The aim of this essay, which focuses on patent translation, is to compare the use of Computer-Assisted Translation (CAT) and Machine Translation (MT). During my curricular internship at a specialized-translation agency called Centro Traduzioni Imolese, I was able to practice patent translation thanks to CAT tools like SDL Trados Studio, something I have never studied at university in Forlì. Nowadays, however, Machine Translation is widely used in patent translation as well, due to the vast number of technical terms and their repetitiveness in patents, so the machine can translate automatically and rapidly all repeated terms with the same word, thanks to the use of corpora and translation memories linked to the patent field. In the first chapter I will give a definition of what a patent is, and I will introduce the concept of patent literature; afterwards, I will illustrate the differences between Computer-Assisted Translation and Machine Translation used in patent translation. In the second chapter I will translate two portions of patent 102019000018530, via the Matecat online application, translating the first part with CAT and the second part with MT, then doing the same for the second portion selected from the patent. Finally, in the third chapter, I will analyse the two translations, comparing the results in order to discover which is the more efficient method for translating patents.

Machine learning approach to the extended Hubbard model

The 1d extended Hubbard model with soft-shoulder potential has proved itself to be very difficult to study due its non solvability and to competition between terms of the Hamiltonian. Given this, we tried to investigate its phase diagram for filling n=2/5 and range of soft-shoulder potential r=2 by using Machine Learning techniques. That led to a rich phase diagram; calling U, V the parameters associated to the Hubbard potential and the soft-shoulder potential respectively, we found that for V<5 and U>3 the system is always in Tomonaga Luttinger Liquid phase, then becomes a Cluster Luttinger Liquid for 57, with a quasi-perfect crystal in the U<3V/2 and U>5 region. Finally we found that for U<5 and V>2-3 the system shall maintain the Cluster Luttinger Liquid structure, with a residual in-block single particle mobility.

Synthetic data generation for the assessment of antimicrobial resistance through machine learning

As a consequence of the diffusion of next generation sequencing techniques, metagenomics databases have become one of the most promising repositories of information about features and behavior of microorganisms. One of the subjects that can be studied from those data are bacteria populations. Next generation sequencing techniques allow to study the bacteria population within an environment by sampling genetic material directly from it, without the needing of culturing a similar population in vitro and observing its behavior. As a drawback, it is quite complex to extract information from those data and usually there is more than one way to do that; AMR is no exception. In this study we will discuss how the quantified AMR, which regards the genotype of the bacteria, can be related to the bacteria phenotype and its actual level of resistance against the specific substance. In order to have a quantitative information about bacteria genotype, we will evaluate the resistome from the read libraries, aligning them against CARD database. With those data, we will test various machine learning algorithms for predicting the bacteria phenotype. The samples that we exploit should resemble those that could be obtained from a natural context, but are actually produced by a read libraries simulation tool. In this way we are able to design the populations with bacteria of known genotype, so that we can relay on a secure ground truth for training and testing our algorithms.