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Marco Masseroli

Publications and source records attributed to Marco Masseroli.

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Novel Knowledge-Guided Generative Methods for Synthetic Transcriptomic Data

As biomedical research increasingly relies on data-intensive tools, the quality and utility of datasets are critical. Challenges such as imbalances, biases, and ethical or legal constraints often limit access to high-quality data. Synthetic data generation can help overcome these limitations. Here, we present a comparative analysis of generative models for transcriptomic data, investigating strategies to incorporate prior biological knowledge via gene graphs. This ensures that synthetic data capture real-world gene patterns, maintaining their usefulness for downstream tasks. In particular, we introduce and benchmark three variants of the Generative Adversarial Network. Among the alternatives, MK-TGAN - an innovative multi-kernel, Graph Neural Network-based model - stands out for its performance in terms of both the realism and utility of the generated data. Unlike other methods, MK-TGAN leverages prior knowledge graphs by exploiting graph neural networks. Our results show that prior knowledge integration strategies improve performance, and that MK-TGAN consistently produces synthetic samples with superior realism and biological plausibility.

cs.LG

mmid: Multi-Modal Integration and Downstream analyses for healthcare analytics in Python

mmid (Multi-Modal Integration and Downstream analyses for healthcare analytics) is a Python package that offers multi-modal fusion and imputation, classification, time-to-event prediction and clustering functionalities under a single interface, filling the gap of sequential data integration and downstream analyses for healthcare applications in a structured and flexible environment. mmid wraps in a unique package several algorithms for multi-modal decomposition, prediction and clustering, which can be combined smoothly with a single command and proper configuration files, thus facilitating reproducibility and transferability of studies involving heterogeneous health data sources. A showcase on personalised cardiovascular risk prediction is used to highlight the relevance of a composite pipeline enabling proper treatment and analysis of complex multi-modal data. We thus employed mmid in an example real application scenario involving cardiac magnetic resonance imaging, electrocardiogram, and polygenic risk scores data from the UK Biobank. We proved that the three modalities captured joint and individual information that was used to (1) early identify cardiovascular disease before clinical manifestations with cardiological relevance, and (2) do it better than single data sources alone. Moreover, mmid allowed to impute partially observable data modalities without considerable performance losses in downstream disease prediction, thus proving its relevance for real-world health analytics applications (which are often characterised by the presence of missing data).

stat.CO