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Bovo, S.

Publications and source records attributed to Bovo, S..

5 recordsLinked to original sources

Coherent Cross-modal Generation of Synthetic Biomedical Data to Advance Multimodal Precision Medicine

Integration of multimodal, multi-omics data is critical for advancing precision medicine, yet its application is frequently limited by incomplete datasets where one or more modalities are missing. To address this challenge, we developed a generative framework capable of synthesizing any missing modality from an arbitrary subset of available modalities. We introduce Coherent Denoising, a novel ensemble-based generative diffusion method that aggregates predictions from multiple specialized, single-condition models and enforces consensus during the sampling process. We compare this approach against a multi-condition, generative model that uses a flexible masking strategy to handle arbitrary subsets of inputs. The results show that our architectures successfully generate high-fidelity data that preserve the complex biological signals required for downstream tasks. We demonstrate that the generated synthetic data can be used to maintain the performance of predictive models on incomplete patient profiles and can leverage counterfactual analysis to guide the prioritization of diagnostic tests. We validated the frameworks efficacy on a large-scale multimodal, multi-omics cohort from The Cancer Genome Atlas (TCGA) of over 10,000 samples spanning across 20 tumor types, using data modalities such as copy-number alterations (CNA), transcriptomics (RNA-Seq), proteomics (RPPA), and histopathology (WSI). This work establishes a robust and flexible generative framework to address sparsity in multimodal datasets, providing a key step toward improving precision oncology. Author SummaryTo make precision medicine a reality, doctors need to understand a patients status from many angles, using different data types like genetic information (omics) and tissue slide images (histopathology). The problem is that most patient records are incomplete, with one or more of these data types missing, which can limit the effectiveness of powerful predictive tools. We have built a generative AI system designed to learn the complex biological patterns that connect all these different data types. By looking at the patient data that is available, our system can then generate a realistic, synthetic version of any missing piece. We developed a novel method called Coherent Denoising to do this, which is flexible and helps protect patient privacy. We validated this approach on a large dataset of over 10,000 cancer patient profiles. We show that our AI-generated data is high-fidelity and can successfully complete these sparse patient profiles, allowing AI models for crucial tasks like cancer staging and survival prediction to work at their best even with incomplete patient data. We also demonstrate how this tool can be used to evaluate the potential impact of new tests, helping to prioritize which expensive diagnostic tests would be most beneficial for a patient.

bioinformatics↗

Toward Reliable Synthetic Omics: Statistical Distances for Generative Models Evaluation

BackgroundSynthetic data generation is emerging as an approach to overcome the limitations of real-world data scarcity in omics studies, especially in precision medicine and oncology. Omics datasets, with their high dimensionality and relatively small sample sizes, often lead to overfitting, especially in deep learning models. Generative models offer a promising way to generate realistic synthetic data preserving the original data distribution. However, there is still no objective consensus on how to evaluate their performance. In this study, we set out to validate generative networks for transcriptomics data generation by using statistical distances as robust evaluation metrics. ResultsWe observe that statistical distances enable simultaneous evaluation of global and local data fidelity of generated synthetic data. Because these distances satisfy the properties of true metrics, they also enable formal hypothesis testing to assess whether generative models have in fact converged or are merely approaching the reference distribution. Crucially, optimizing for these distances was found to implicitly select models maximizing other widely used metrics of generative performance, providing evidence of their broad applicability. Overall, our findings indicate that the adoption of these metrics can play a key role in guiding the development of generative models across a wide range of domains.

bioinformatics↗

Discovering genomic regions associated with the phenotypic differentiation of European local pig breeds

BackgroundIntensive selection of modern pig breeds resulted in genetic improvement of productive traits while local pig breeds remained less performant. As they have been bred in extensive systems, they have adapted to specifical environmental conditions resulting in a rich genotypic and phenotypic diversity. This study is based on European local pig breeds genetically characterized using DNA-pool sequencing data and phenotypically characterized using breed level phenotypes related to stature, fatness, growth and reproductive performance traits. These data were analyzed using a dedicated approach to detect selection signatures linked to phenotypic traits in order to uncover potential candidate genes that may be under adaptation to specific environments. ResultsGenetic data analysis of European pig breeds revealed four main axes of genetic variation represented by Iberian and modern breeds (i.e. Large White, Landrace, and Duroc). In addition, breeds clustered according to their geographical origin, for example French Gascon and Basque breeds, Italian Apulo Calabrese and Casertana breeds, Spanish Iberian and Portuguese Alentejano breeds. Principal component analysis of phenotypic data distinguished between larger and leaner breeds with better growth potential and reproductive performance on one hand and breeds that were smaller, fatter, and had low growth and reproductive efficiency on the other hand. Linking selection signatures with phenotype identified 16 significant genomic regions associated with stature, 24 with fatness, 2 with growth and 192 with reproduction. Among them, several regions contained candidate genes with possible biological effect on stature, fatness, growth and reproduction performance traits. For example, strong associations were found for stature in two regions containing the ANXA4 and ANTXR1 genes, for fatness containing the DNMT3A and POMC genes and for reproductive performance containing the HSD17B7 gene. ConclusionsThe present study on European local pig breeds used a dedicated approach for searching selection signatures supported by phenotypic data at the breed level to identify potential candidate genes that may have adapted to different living environments and production systems. Results can be useful to define conservation programs of local pig breeds.

genetics↗

NETGE-PLUS: standard and network-based gene enrichment analysis in human and model organisms

Omics techniques provide a spectrum of information that needs to be disentangled to characterize complex traits at the molecular level. The gap between genotype and phenotype must be closed by reconciling the genome information with the set of molecular pathways and biological processes describing the phenotype. In dealing with this problem, gene enrichment analysis has become the most widely adopted strategy. Here, we present NETGE-PLUS, a web-server for standard and network-based functional interpretation of gene sets of human and of model organisms, including S. scrofa, S. cerevisiae, E. coli and A. thaliana. NETGE-PLUS enables the functional enrichment of both simple and ranked lists of genes, also introducing the possibility of exploring relationships among KEGG pathways. A web interface makes data retrieval complete and user-friendly. NETGE-PLUS is publicly available at http://net-ge2.biocomp.unibo.it

bioinformatics↗

A comparative analysis of label-free liquid chromatography-mass spectrometry liver proteomic profiles highlights metabolic differences between pig breeds

Liver is a complex organ governing several physiological processes that define biological mechanisms affecting growth, feed efficiency and performance traits in all livestock species, including the pig. Proteomics may contribute to better understand the relationship between liver functions and complex production traits in pigs and to characterize this specie as biomedical model. This study applied, for the first time, a label-free liquid chromatography-mass spectrometry (LC-MS) proteomic approach to compare the liver proteome profiles of two important heavy pig breeds, Italian Duroc (IDU) and Italian Large White (ILW). Liver specimens were collected (after slaughtering) from performance tested pigs of these two breeds, raised in standard conditions. The label-free LC-MS method captured a total of 501 proteins of which 200 were subsequently considered in the between breeds comparison. A statistical pipeline based on the sparse Partial Least Squares Discriminant Analysis (sPLS-DA), coupled with stability and significance tests, was applied for the identification of up or down regulated proteins between breeds. Analyses revealed a total of 25 proteins clearly separating IDU and ILW pigs. Among the top proteins differentiating the two breeds ACAA2 and CES3 were up-regulated in ILW and HIST2H2BF and KHK were up-regulated in IDU. FASN, involved in fatty acid metabolism and encoded by a gene located in a QTL region for fatty acid composition, was up-regulated in ILW. Protein interaction analysis showed that 16 of these proteins were connected in one big module. Functional analyses indicated that differentially expressed proteins were involved in several biological processes related to the metabolism of lipids, amino-acids, carbohydrates, cofactors and antibiotics/drugs, supporting that these functions might distinguish IDU and ILW pigs. This comparative proteomic analysis of the porcine liver highlighted several biological factors that could determine the peculiar production potentials of these two heavy pig breeds, derived by their different genetic backgrounds.

systems biology↗