arXiv subjects

Marco S. Nobile

Publications and source records attributed to Marco S. Nobile.

11 recordsLinked to original sources

arXiv2026

Advancing Trustworthy AI in Healthcare Through Meta-Research: Results of an Interdisciplinary Design-Thinking Workshop

Meta-research and Trustworthy AI (TAI) share common goals, namely improving evidence, robustness, and transparency, yet there is very little interplay between the two fields. To investigate the potential benefits of closer collaboration between the domains of TAI in healthcare and meta-research, we convened an interdisciplinary workshop funded by the Volkswagen Foundation in February 2025. The workshop aimed to collaboratively examine key challenges in translating AI ethics principles into practice and to identify potential solutions informed by meta-research approaches. A Design Thinking-informed co-creation approach was followed by an inductive descriptive analysis of the outputs. Our results demonstrate how meta-research can offer concrete contributions to address pressing challenges of TAI in healthcare. These challenges include the dynamic and complex nature of TAI ethical requirements and principles, common terminology and understanding of TAI, ensuring robustness, replicability, and reproducibility, choosing adequate evaluation metrics, lack of transparency, advancing preclinical biomedical research, and validation in real-world clinical environments. We present a catalog of ideas and a roadmap for future research, which synthesize existing interconnections and identify concrete next steps and open research gaps, thereby serving as a foundation for future interdisciplinary efforts.

cs.CY↗

arXiv2025

Multimodal Attention-Aware Fusion for Diagnosing Distal Myopathy: Evaluating Model Interpretability and Clinician Trust

Distal myopathy represents a genetically heterogeneous group of skeletal muscle disorders with broad clinical manifestations, posing diagnostic challenges in radiology. To address this, we propose a novel multimodal attention-aware fusion architecture that combines features extracted from two distinct deep learning models, one capturing global contextual information and the other focusing on local details, representing complementary aspects of the input data. Uniquely, our approach integrates these features through an attention gate mechanism, enhancing both predictive performance and interpretability. Our method achieves a high classification accuracy on the BUSI benchmark and a proprietary distal myopathy dataset, while also generating clinically relevant saliency maps that support transparent decision-making in medical diagnosis. We rigorously evaluated interpretability through (1) functionally grounded metrics, coherence scoring against reference masks and incremental deletion analysis, and (2) application-grounded validation with seven expert radiologists. While our fusion strategy boosts predictive performance relative to single-stream and alternative fusion strategies, both quantitative and qualitative evaluations reveal persistent gaps in anatomical specificity and clinical usefulness of the interpretability. These findings highlight the need for richer, context-aware interpretability methods and human-in-the-loop feedback to meet clinicians' expectations in real-world diagnostic settings.

cs.CV↗

arXiv2023

Measuring Perceived Trust in XAI-Assisted Decision-Making by Eliciting a Mental Model

This empirical study proposes a novel methodology to measure users' perceived trust in an Explainable Artificial Intelligence (XAI) model. To do so, users' mental models are elicited using Fuzzy Cognitive Maps (FCMs). First, we exploit an interpretable Machine Learning (ML) model to classify suspected COVID-19 patients into positive or negative cases. Then, Medical Experts' (MEs) conduct a diagnostic decision-making task based on their knowledge and then prediction and interpretations provided by the XAI model. In order to evaluate the impact of interpretations on perceived trust, explanation satisfaction attributes are rated by MEs through a survey. Then, they are considered as FCM's concepts to determine their influences on each other and, ultimately, on the perceived trust. Moreover, to consider MEs' mental subjectivity, fuzzy linguistic variables are used to determine the strength of influences. After reaching the steady state of FCMs, a quantified value is obtained to measure the perceived trust of each ME. The results show that the quantified values can determine whether MEs trust or distrust the XAI model. We analyze this behavior by comparing the quantified values with MEs' performance in completing diagnostic tasks.

cs.HC↗

arXiv2023

Assisting clinical practice with fuzzy probabilistic decision trees

The need for fully human-understandable models is increasingly being recognised as a central theme in AI research. The acceptance of AI models to assist in decision making in sensitive domains will grow when these models are interpretable, and this trend towards interpretable models will be amplified by upcoming regulations. One of the killer applications of interpretable AI is medical practice, which can benefit from accurate decision support methodologies that inherently generate trust. In this work, we propose FPT, (MedFP), a novel method that combines probabilistic trees and fuzzy logic to assist clinical practice. This approach is fully interpretable as it allows clinicians to generate, control and verify the entire diagnosis procedure; one of the methodology's strength is the capability to decrease the frequency of misdiagnoses by providing an estimate of uncertainties and counterfactuals. Our approach is applied as a proof-of-concept to two real medical scenarios: classifying malignant thyroid nodules and predicting the risk of progression in chronic kidney disease patients. Our results show that probabilistic fuzzy decision trees can provide interpretable support to clinicians, furthermore, introducing fuzzy variables into the probabilistic model brings significant nuances that are lost when using the crisp thresholds set by traditional probabilistic decision trees. We show that FPT and its predictions can assist clinical practice in an intuitive manner, with the use of a user-friendly interface specifically designed for this purpose. Moreover, we discuss the interpretability of the FPT model.

cs.LG↗

arXiv2021

Salp Swarm Optimization: a Critical Review

In the crowded environment of bio-inspired population-based metaheuristics, the Salp Swarm Optimization (SSO) algorithm recently appeared and immediately gained a lot of momentum. Inspired by the peculiar spatial arrangement of salp colonies, which are displaced in long chains following a leader, this algorithm seems to provide an interesting optimization performance. However, the original work was characterized by some conceptual and mathematical flaws, which influenced all ensuing papers on the subject. In this manuscript, we perform a critical review of SSO, highlighting all the issues present in the literature and their negative effects on the optimization process carried out by this algorithm. We also propose a mathematically correct version of SSO, named Amended Salp Swarm Optimizer (ASSO) that fixes all the discussed problems. We benchmarked the performance of ASSO on a set of tailored experiments, showing that it is able to achieve better results than the original SSO. Finally, we performed an extensive study aimed at understanding whether SSO and its variants provide advantages compared to other metaheuristics. The experimental results, where SSO cannot outperform simple well-known metaheuristics, suggest that the scientific community can safely abandon SSO.

cs.NE↗

arXiv2021

Investigating the performance of multi-objective optimization when learning Bayesian Networks

Bayesian Networks have been widely used in the last decades in many fields, to describe statistical dependencies among random variables. In general, learning the structure of such models is a problem with considerable theoretical interest that poses many challenges. On the one hand, it is a well-known NP-complete problem, practically hardened by the huge search space of possible solutions. On the other hand, the phenomenon of I-equivalence, i.e., different graphical structures underpinning the same set of statistical dependencies, may lead to multimodal fitness landscapes further hindering maximum likelihood approaches to solve the task. In particular, we exploit the NSGA-II multi-objective optimization procedure in order to explicitly account for both the likelihood of a solution and the number of selected arcs, by setting these as the two objective functions of the method. The aim of this work is to investigate the behavior of NSGA-II and analyse the quality of its solutions. We thus thoroughly examined the optimization results obtained on a wide set of simulated data, by considering both the goodness of the inferred solutions in terms of the objective functions values achieved, and by comparing the retrieved structures with the ground truth, i.e., the networks used to generate the target data. Our results show that NSGA-II can converge to solutions characterized by better likelihood and less arcs than classic approaches, although paradoxically characterized in many cases by a lower similarity with the target network.

cs.LG↗

arXiv2019

USE-Net: incorporating Squeeze-and-Excitation blocks into U-Net for prostate zonal segmentation of multi-institutional MRI datasets

Prostate cancer is the most common malignant tumors in men but prostate Magnetic Resonance Imaging (MRI) analysis remains challenging. Besides whole prostate gland segmentation, the capability to differentiate between the blurry boundary of the Central Gland (CG) and Peripheral Zone (PZ) can lead to differential diagnosis, since tumor's frequency and severity differ in these regions. To tackle the prostate zonal segmentation task, we propose a novel Convolutional Neural Network (CNN), called USE-Net, which incorporates Squeeze-and-Excitation (SE) blocks into U-Net. Especially, the SE blocks are added after every Encoder (Enc USE-Net) or Encoder-Decoder block (Enc-Dec USE-Net). This study evaluates the generalization ability of CNN-based architectures on three T2-weighted MRI datasets, each one consisting of a different number of patients and heterogeneous image characteristics, collected by different institutions. The following mixed scheme is used for training/testing: (i) training on either each individual dataset or multiple prostate MRI datasets and (ii) testing on all three datasets with all possible training/testing combinations. USE-Net is compared against three state-of-the-art CNN-based architectures (i.e., U-Net, pix2pix, and Mixed-Scale Dense Network), along with a semi-automatic continuous max-flow model. The results show that training on the union of the datasets generally outperforms training on each dataset separately, allowing for both intra-/cross-dataset generalization. Enc USE-Net shows good overall generalization under any training condition, while Enc-Dec USE-Net remarkably outperforms the other methods when trained on all datasets. These findings reveal that the SE blocks' adaptive feature recalibration provides excellent cross-dataset generalization when testing is performed on samples of the datasets used during training.

cs.CV↗

arXiv2019

CNN-based Prostate Zonal Segmentation on T2-weighted MR Images: A Cross-dataset Study

Prostate cancer is the most common cancer among US men. However, prostate imaging is still challenging despite the advances in multi-parametric Magnetic Resonance Imaging (MRI), which provides both morphologic and functional information pertaining to the pathological regions. Along with whole prostate gland segmentation, distinguishing between the Central Gland (CG) and Peripheral Zone (PZ) can guide towards differential diagnosis, since the frequency and severity of tumors differ in these regions; however, their boundary is often weak and fuzzy. This work presents a preliminary study on Deep Learning to automatically delineate the CG and PZ, aiming at evaluating the generalization ability of Convolutional Neural Networks (CNNs) on two multi-centric MRI prostate datasets. Especially, we compared three CNN-based architectures: SegNet, U-Net, and pix2pix. In such a context, the segmentation performances achieved with/without pre-training were compared in 4-fold cross-validation. In general, U-Net outperforms the other methods, especially when training and testing are performed on multiple datasets.

cs.CV↗

arXiv2018

GenHap: A Novel Computational Method Based on Genetic Algorithms for Haplotype Assembly

The computational problem of inferring the full haplotype of a cell starting from read sequencing data is known as haplotype assembly, and consists in assigning all heterozygous Single Nucleotide Polymorphisms (SNPs) to exactly one of the two chromosomes. Indeed, the knowledge of complete haplotypes is generally more informative than analyzing single SNPs and plays a fundamental role in many medical applications. To reconstruct the two haplotypes, we addressed the weighted Minimum Error Correction (wMEC) problem, which is a successful approach for haplotype assembly. This NP-hard problem consists in computing the two haplotypes that partition the sequencing reads into two disjoint sub-sets, with the least number of corrections to the SNP values. To this aim, we propose here GenHap, a novel computational method for haplotype assembly based on Genetic Algorithms, yielding optimal solutions by means of a global search process. In order to evaluate the effectiveness of our approach, we run GenHap on two synthetic (yet realistic) datasets, based on the Roche/454 and PacBio RS II sequencing technologies. We compared the performance of GenHap against HapCol, an efficient state-of-the-art algorithm for haplotype phasing. Our results show that GenHap always obtains high accuracy solutions (in terms of haplotype error rate), and is up to 4x faster than HapCol in the case of Roche/454 instances and up to 20x faster when compared on the PacBio RS II dataset. Finally, we assessed the performance of GenHap on two different real datasets. Future-generation sequencing technologies, producing longer reads with higher coverage, can highly benefit from GenHap, thanks to its capability of efficiently solving large instances of the haplotype assembly problem.

q-bio.GN↗

arXiv2018

Efficient computational strategies to learn the structure of probabilistic graphical models of cumulative phenomena

Structural learning of Bayesian Networks (BNs) is a NP-hard problem, which is further complicated by many theoretical issues, such as the I-equivalence among different structures. In this work, we focus on a specific subclass of BNs, named Suppes-Bayes Causal Networks (SBCNs), which include specific structural constraints based on Suppes' probabilistic causation to efficiently model cumulative phenomena. Here we compare the performance, via extensive simulations, of various state-of-the-art search strategies, such as local search techniques and Genetic Algorithms, as well as of distinct regularization methods. The assessment is performed on a large number of simulated datasets from topologies with distinct levels of complexity, various sample size and different rates of errors in the data. Among the main results, we show that the introduction of Suppes' constraints dramatically improve the inference accuracy, by reducing the solution space and providing a temporal ordering on the variables. We also report on trade-offs among different search techniques that can be efficiently employed in distinct experimental settings. This manuscript is an extended version of the paper "Structural Learning of Probabilistic Graphical Models of Cumulative Phenomena" presented at the 2018 International Conference on Computational Science.

cs.LG↗

arXiv2017

Parallel Implementation of Efficient Search Schemes for the Inference of Cancer Progression Models

The emergence and development of cancer is a consequence of the accumulation over time of genomic mutations involving a specific set of genes, which provides the cancer clones with a functional selective advantage. In this work, we model the order of accumulation of such mutations during the progression, which eventually leads to the disease, by means of probabilistic graphic models, i.e., Bayesian Networks (BNs). We investigate how to perform the task of learning the structure of such BNs, according to experimental evidence, adopting a global optimization meta-heuristics. In particular, in this work we rely on Genetic Algorithms, and to strongly reduce the execution time of the inference -- which can also involve multiple repetitions to collect statistically significant assessments of the data -- we distribute the calculations using both multi-threading and a multi-node architecture. The results show that our approach is characterized by good accuracy and specificity; we also demonstrate its feasibility, thanks to a 84x reduction of the overall execution time with respect to a traditional sequential implementation.

cs.LG↗