Publications

Background: The growing amount of biomedical knowledge about cancer in combination with genome-scale patient profiling data offers unprecedented opportunities for personalized oncology. However, the large amounts of knowledge and data require scalable approaches to providing actionable information to support clinicians in decision-making [1]. Objective: To develop software and methods that integrate all relevant clinical and genomic data about patients and that enable the discovery of optimal personalized treatment options, together with the supporting literature knowledge and data. Methods: We exploit a Semantic Knowledge Graph (SKG), a type of database that represents medical data in the form of objects and relationships, linking previously unconnected information across several cancer databases. To build up this SKG (OncodashKB), we use the BioCypher library [2]. We then integrate clinical data from patients with high-grade serous ovarian cancer, including information on genome changes collected as part of the DECIDER project (http://deciderproject.eu). The SKG can then be queried to gather evidence paths linking patient-specific alterations to actionable drugs. Results: Our approach provides a fully automated, systematic, and reproducible data integration workflow, along with the use of existing expert-made ontologies to provide interoperability and semantic descriptions. The integrated data is assessed by experts on molecular tumor boards and allows for the exploration of relevant clinical and genomic patient data in a visually accessible format, designed for ease of interpretation by clinicians. Importantly, we expect the system to reveal unexpected evidence paths between patient sequencing data and optimal treatment options based on biomedical knowledge described in the literature and confirmed by high-level evidence. Conclusion: Decision support systems using graph databases emerge as valuable tools by revealing new connections between various patient data and treatment options shown in an easy-to-understand format. References: [1] Reisle, C., Williamson, L.M., Pleasance, E. et al. A platform for oncogenomic reporting and interpretation. Nat Commun 13, 756 (2022). https://doi.org/10.1038/s41467-022-28348-y [2] Lobentanzer, S., Aloy, P., Baumbach, J. et al. Democratizing knowledge representation with BioCypher. Nat Biotechnol 41, 1056–1059 (2023). https://doi.org/10.1038/s41587-023-01848-y.

Nowadays, state-of-the-art AI-based generative models represent a viable solution to overcome privacy issues and biases in the collection of datasets containing personal information, such as faces. Following this intuition, in this paper we introduce ONOT11One, No one and One hundred Thousand (L. Pirandello, 1926), a synthetic dataset specifically focused on the generation of high-quality faces in adherence to the requirements of the ISO/IEC 39794-5 standards that, following the guidelines of the International Civil Aviation Organization (ICAO), defines the interchange formats of face images in electronic Machine-Readable Travel Documents (eMRTD). The strictly controlled and varied mugshot images included in ONOT are useful in research fields related to the analysis of face images in eMRTD, such as Morphing Attack Detection and Face Quality Assessment. The dataset is publicly released2https://miatbiolab.csr.unibo.it/icao-synthetic-dataset, in combination with the generation procedure details in order to improve the reproducibility and enable future extensions.

Gene fusions are common in high-grade serous ovarian cancer (HGSC). Such genetic lesions may promote tumorigenesis, but the pathogenic mechanisms are currently poorly understood. Here, we investigated the role of a PIK3R1-CCDC178 fusion identified from a patient with advanced HGSC. We show that the fusion induces HGSC cell migration by regulating ERK1/2 and increases resistance to platinum treatment. Platinum resistance was associated with rod and ring-like cellular structure formation. These structures contained, in addition to the fusion protein, CIN85, a key regulator of PI3K-AKT-mTOR signaling. Our data suggest that the fusion-driven structure formation induces a previously unrecognized cell survival and resistance mechanism, which depends on ERK1/2-activation.

The presence of visible particles in pharmaceutical products is a critical quality issue that demands strict monitoring. Recently, Convolutional Neural Networks (CNNs) have been widely used in industrial settings to detect defects, but there remains a gap in the literature concerning the detection of particles floating in liquid substances, mainly due to the lack of publicly available datasets. In this study, we focus on the detection of foreign particles in pharmaceutical liquid vials, leveraging two state-of-the-art deep-learning approaches adapted to our specific multiclass problem. The first methodology employs a standard ResNet-18 architecture, while the second exploits a Multi-Instance Learning (MIL) technique to efficiently deal with multiple images (sequences) of the same sample. To address the issue of no data availability, we devised and partially released an annotated dataset consisting of sequences containing 19 images for each sample, captured from rotating vials, both with and without impurities. The dataset comprises 2,426 sequences for a total of 46,094 images labeled at the sequence level and including five distinct classes. The proposed methodologies, trained on this new extensive dataset, represent advancements in the field, offering promising strategies to improve the safety and quality control of pharmaceutical products and setting a benchmark for future comparisons.

Discerning between authentic content and that generated by advanced AI methods has become increasingly challenging. While previous research primarily addresses the detection of fake faces, the identification of generated natural images has only recently surfaced. This prompted the recent exploration of solutions that employ foundation vision-and-language models, like CLIP. However, the CLIP embedding space is optimized for global image-to-text alignment and is not inherently designed for deepfake detection, neglecting the potential benefits of tailored training and local image features. In this study, we propose CoDE (Contrastive Deepfake Embeddings), a novel embedding space specifically designed for deepfake detection. CoDE is trained via contrastive learning by additionally enforcing global-local similarities. To sustain the training of our model, we generate a comprehensive dataset that focuses on images generated by diffusion models and encompasses a collection of 9.2 million images produced by using four different generators. Experimental results demonstrate that CoDE achieves state-of-the-art accuracy on the newly collected dataset, while also showing excellent generalization capabilities to unseen image generators. Our source code, trained models, and collected dataset are publicly available at: https://github.com/aimagelab/CoDE.

Segmentation of the Inferior Alveolar Canal (IAC) is a critical aspect of dentistry and maxillofacial imaging, garnering considerable attention in recent research endeavors. Deep learning techniques have shown promising results in this domain, yet their efficacy is still significantly hindered by the limited availability of 3D maxillofacial datasets. An inherent challenge is posed by the size of input volumes, which necessitates a patch-based processing approach that compromises the neural network performance due to the absence of global contextual information. This study introduces a novel approach that harnesses the spatial information within the extracted patches and incorporates it into a Transformer architecture, thereby enhancing the segmentation process through the use of prior knowledge about the patch location. Our method significantly improves the Dice score by a factor of 4 points, with respect to the previous work proposed by Cipriano et al., while also reducing the training steps required by the entire pipeline. By integrating spatial information and leveraging the power of Transformer architectures, this research not only advances the accuracy of IAC segmentation, but also streamlines the training process, offering a promising direction for improving dental and maxillofacial image analysis.

Forgetting presents a significant challenge during incremental training, making it particularly demanding for contemporary AI systems to assimilate new knowledge in streaming data environments. To address this issue, most approaches in Continual Learning (CL) rely on the replay of a restricted buffer of past data. However, the presence of noise in real-world scenarios, where human annotation is constrained by time limitations or where data is automatically gathered from the web, frequently renders these strategies vulnerable. In this study, we address the problem of CL under Noisy Labels (CLN) by introducing Alternate Experience Replay (AER), which takes advantage of forgetting to maintain a clear distinction between clean, complex, and noisy samples in the memory buffer. The idea is that complex or mislabeled examples, which hardly fit the previously learned data distribution, are most likely to be forgotten. To grasp the benefits of such a separation, we equip AER with Asymmetric Balanced Sampling (ABS): a new sample selection strategy that prioritizes purity on the current task while retaining relevant samples from the past. Through extensive computational comparisons, we demonstrate the effectiveness of our approach in terms of both accuracy and purity of the obtained buffer, resulting in a remarkable average gain of 4.71% points in accuracy with respect to existing loss-based purification strategies. Code is available at https://github.com/aimagelab/mammoth

With the emergence of Transformers and Vision-Language Models (VLMs) such as CLIP, fine-tuning large pre-trained models has recently become a prevalent strategy in Continual Learning. This has led to the development of numerous prompting strategies to adapt transformer-based models without incurring catastrophic forgetting. However, these strategies often compromise the original zero-shot capabilities of the pre-trained CLIP model and struggle to adapt to domains that significantly deviate from the pre-training data. In this work, we propose Continual Generative training for Incremental prompt-Learning, a simple and novel approach to mitigate forgetting while adapting CLIP. Briefly, we employ Variational Autoencoders (VAEs) to learn class-conditioned distributions within the embedding space of the visual encoder. We then exploit these distributions to sample new synthetic visual embeddings and train the corresponding class-specific textual prompts during subsequent tasks. Through extensive experiments on different domains, we show that such a generative replay approach can adapt to new tasks while improving zero-shot capabilities, evaluated using a novel metric tailored for CL scenarios. Notably, further analysis reveals that our approach can bridge the gap with joint prompt tuning. The codebase is available at https://github.com/aimagelab/mammoth.