New article on realistic tumoral sample simulation published in BMC Bioinformatics!

🚀 We’re excited to share that our latest paper is now published in BMC Bioinformatics: MOV&RSim: computational modelling of cancer-specific variants and sequencing reads characteristics for realistic tumoral sample simulation, https://doi.org/10.1186/s12859-025-06292-0

📊 We developed MOV&RSIM, a novel simulator that leverages data-driven information to set variants and reads characteristics, producing realistic tumoral samples, and providing full control on biological and technical parameters. Additionally, we leveraged well-annotated variant databases to create cancer-specific presets that inform the simulator’s parameters for 21 cancer types.

🔍 The proposed simulator and presets represent the most adaptable and comprehensive computational framework currently available for generating tumor samples, enabling comprehensive benchmarking and, ultimately, the optimization of somatic variant callers across diverse cancer types.

👥 This research is the result of a collaboration between our group and AB ANALITICA srl. Congratulations to the first author, Dr. Francesca Longhin, who developed MOV&RSim during her doctoral studies in our research group!

đź”— The tool is freely available on gitlab at: https://gitlab.com/sysbiobig/movarsim

New article published on IEEE Access

We are pleased to announce the publication of our latest paper, “Validity of Feature Importance in Low-Performing Machine Learning for Tabular Biomedical Data”
in IEEE Access: 10.1109/ACCESS.2025.3618851

🔍 This study investigates how machine learning (ML) performance affects the validity of feature importance in biomedical datasets.
While high model accuracy is often considered a prerequisite for interpreting feature importance, this assumption has rarely been examined. In this work, we challenge this notion by showing that even low-performing models can provide reliable feature importance in biomedical contexts.

🖥️ We developed an experimental framework to assess the stability of feature importance, finding that performance degradation due to a limited number of samples behaves as conventionally expected, reducing validity, whereas degradation caused by a limited number of features preserves the validity of feature importance to a much greater extent.

👥 This research is the result of a collaboration between our group, Georgia Institute of Technology and Seoul National University. Congratulations to the first author, Dr. Youngro Lee, who was a visiting Ph.D. student in our group during his doctoral studies at Seoul National University. Great job, Youngro!

Celebrating achievements: PhD Thesis Award to Dr. Giulia Cesaro

Congratulations to our post-doc researcher Giulia Cesaro who has been awarded the PhD Thesis Award 🏆 by the Istituto di BioRobotica – Scuola Superiore Sant’Anna during the XLIV Annual School 2025 of the Gruppo Nazionale di Bioingegneria (GNB).

✨ Her doctoral dissertation was recognized by the committee “for the originality of the content and the ability to apply engineering approaches to the analysis of cell-to-cell communication from transcriptomic data, in a complex biological system, tackled with methods that reveal and model its complexity.” 💻

Sysbiobig @ISMB/ECCB 2025

Last week, Barbara, Giacomo, Giulia, Gaia, and Matteo attended the 33rd Conference on Intelligent Systems for Molecular Biology & 24th European Conference on Computational Biology (ISMB/ECCB 2025), held in Liverpool, UK, from July 20–24, 2025.

The conference was a valuable opportunity to attend cutting-edge presentations, engage in discussions on the latest advances in bioinformatics, and foster new collaborations.

We’re proud to share that our group contributed to the scientific program with several presentations:

  • Giulia Cesaro delivered an oral presentation in the NetBio session titled “Cell-specific Graph Operation Strategy on Signaling Intracellular Pathways” showcasing work done in collaboration with the CostaLab at RWTH Aachen University.
  • Giacomo Baruzzo presented the poster “Realistic Simulation of NGS Reads from Tumoral Samples with MOV&RSim”, a project led by Francesca Longhin (former PhD student of our group), in collaboration with AB Analitica.
  • Matteo Baldan presented the poster “Integrating Biological Knowledge for Feature Summarization in Spatial Transcriptomics”.
  • Gaia Tussardi presented the poster “Multilevel Network Visualization for Deciphering Dysregulated Cellular Signalling”.
  • In collaboration with the CostaLab at RWTH Aachen University, we also co-organized the tutorial “Computational Approaches for Deciphering Cell-Cell Communication from Single-Cell and Spatial Transcriptomics Data”.

Our paper is out in NAR Genomics and Bioinformatics

🚀 We’re excited to share that our latest paper is now published in NAR Genomics and Bioinformatics: Differential cellular communication inference framework for large-scale single-cell RNA-sequencing data, https://doi.org/10.1093/nargab/lqaf084

We introduce a novel computational framework tailored for analyzing and interpreting differential cell–cell communication in complex, large-scale scRNA-seq datasets. The framework incorporates two tools: scSeqCommDiff, which identifies and characterizes alterations in cell–cell communication in a fast and memory-efficient manner, and CClens, which facilitates interpretation and exploration through an interactive R/Shiny interface.ì

What’s new?
👥 Works across diverse experimental designs
🔍 Captures both intercellular and intracellular signaling
📊 Designed for big data: fast and memory-efficient
🖥️ Comes with an interactive Shiny app for easy and insightful exploration

Explore the tools:
đź”— https://gitlab.com/sysbiobig/scseqcomm
đź”— https://gitlab.com/sysbiobig/cclens

Our contribution to AIME 2025 in Pavia

Last week, our group attended the 23rd International Conference on Artificial Intelligence in Medicine (AIME 2025) in Pavia, Italy.

It was a fantastic opportunity to follow high-quality presentations and engage with leading researchers and professionals from across the AI and healthcare communities.

We are proud to share that we contributed to the scientific program with four research papers:

  • Erica Tavazzi co-authored the poster “Towards Distributed Process Discovery in Healthcare: Testing and Proving the Feasibility of the Federated Alpha+ Algorithm.”
  • At the 2nd International Workshop on Process Mining Applications for Healthcare (PM4H 2025), our group was also involved in two contributions: “Predicting Next Clinical Event in Amyotrophic Lateral Sclerosis using Process-Oriented Machine Learning Models: a Case Study” and “Federated I-PALIA: Privacy-By-Design Distributed Process Discovery for Duplicated Activities in Healthcare” (🏆Best Paper Award – PM4H 2025).

We sincerely thank the conference organizers for hosting this event and for giving us the opportunity to share our research.

JOIN OUR TUTORIAL ON CELL-CELL COMMUNICATION AT ISMB/ECCB 2025

In collaboration with CostaLab of RWTH University of Aachen, we are hosting a tutorial titled “Computational approaches for deciphering cell-cell communication from single-cell transcriptomics and spatial transcriptomics data” at the ISMB/ECCB 2025.

This tutorial will provide a comprehensive introduction to computational approaches for inferring cell-cell communication using single-cell and spatial transcriptomics data. We will cover the fundamental concepts of cellular communication, the assumptions underlying the analysis, and focus on the main computational methods currently used in the field.

đź“… Date: July 15, 2025

đź’» Where: Online (Virtual)

đź”— Register at ISMB/ECCB25: https://www.iscb.org/ismbeccb2025/register

👉 Learn more: https://www.iscb.org/ismbeccb2025/programme-agenda/tutorials#vt3

Three New PhD Graduates in Our Research Group!

On March 20th, 2025, we proudly celebrated the achievements of Isotta Trescato, Giulia Cesaro, and Francesca Longhin, who successfully defended their Ph.D. theses in Information Engineering at the University of Padua. 🎉

Each of them conducted outstanding research on cutting-edge topics in computational medicine and bioinformatics, contributing valuable knowledge and tools to their respective fields.

🔬 Giulia Cesaro focused her PhD research on the development of computational methods to infer cell-cell communication using single-cell RNA sequencing data. Her work allows for a deeper understanding of how cells interact with each other in complex tissues—knowledge that is critical for interpreting biological processes such as development, immune response, and disease progression.

🧬 Francesca Longhin worked on enhancing variant calling and interpretation pipelines through data-driven in-silico simulations and artificial intelligence techniques. Her project improves the accuracy and reliability of genetic variant analysis, a fundamental aspect of personalized medicine and genomic diagnostics.

📊 Isotta Trescato dedicated her thesis to transparent artificial intelligence approaches for modeling disease progression using real-world clinical registry data. Her goal was to build predictive models that are not only accurate but also interpretable by clinicians—an essential requirement for integrating AI into real-world healthcare settings.

Sharing Our Research in High Performance Computing applied to Bioinformatics at PDP 2025 & Best Paper Award!

Last week, Giacomo attended the 33rd Euromicro International Conference on Parallel, Distributed, and Network-Based Processing (March 10-12, 2025 – Turin, Italy).

It was a great opportunity to attend insightful talks and engage in discussions about the present and future of high-performance computing!

We are also proud to share that our work, “quickSparseM: a library for memory- and time-efficient computation on large, sparse matrices with application to omics data” by Giacomo Baruzzo, Giulia Cesaro, and Barbara Di Camillo, received the Best Paper Award in the “High Performance Computing in Modelling and Simulation” session. The article will soon be available in the conference proceedings on the IEEE website (https://www.computer.org/csdl/proceedings/1000543).

We extend our sincere thanks to the conference and session organizers for hosting this event and giving us the opportunity to present our research!

Building Bridges Between Engineering and Medicine Through AI

On Tuesday, 21 January 2025, the Aula Morgagni at the Policlinico Universitario of Padua hosted the event “Introduction to Artificial Intelligence in Medicine.” Organised by the Departments of Information Engineering (DEI) and Medicine (DIMED), the meeting brought together experts and researchers to discuss the transformative role of AI in healthcare.

The session was opened by Professors Gaudenzio Meneghesso, Director of the DEI, and Paolo Simioni, Director of the DIMED, who welcomed attendees and highlighted the interdisciplinary collaboration driving AI innovation.

The scientific programme included a series of engaging presentations:

  • Introduction to Machine Learning by Prof. Barbara Di Camillo (DEI) provided a comprehensive overview of the fundamentals of machine learning and its applications in medical research.
  • Applications to Clinical Records by Dr. Erica Tavazzi (DEI), a researcher from our group, explored AI-driven approaches to extracting insights from patient data.
  • Applications to Imaging Data by Dr. Marco Castellaro (DEI) demonstrated how AI enhances diagnostic imaging techniques.
  • Large Language Models and Generative AI and Chatbots were expertly discussed by Prof. Giorgio Satta (DEI), who highlighted their potential to revolutionise communication and support activities.
  • Data Representation and Knowledge in Generative AI by Prof. Nicola Ferro (DEI) delved into the technical challenges and opportunities in knowledge-based systems.

The event concluded with a dynamic Q&A session, fostering lively discussions among attendees and speakers.

Systems Biology and Bioinformatics Group
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