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Institute for System Analysis and Computer Science «A. Ruberti» - IASI

National Research Council of Italy - CNR

BioBitUnit

Computational Biology and Bioinformatics.

We develop computational methods for the integrated analysis of -omics data, with a focus on transcriptional regulatory networks, transcription factor binding site enrichment and deep learning on biological sequences.

The group

Rigorous methods for complex biological questions

We combine statistics, network theory, machine learning and molecular biology to understand how gene expression programs are orchestrated in the cell — and what happens when they go wrong.

Our work starts from a simple idea: biological function emerges from networks of interactions, not from isolated genes. We build and analyse transcriptional regulatory networks from experimental data and from predicted transcription factor binding sites, looking for the principles that govern gene expression in physiological and pathological conditions.

We design open, reproducible software tools — such as the TRANSPARENT framework for TFBS enrichment analysis and DNABERT-based models for binding-site prediction — and apply them to concrete cases, from oncology and viral infection to neurodegenerative and complex diseases, in close collaboration with experimental groups inside and outside CNR.

The group is part of the BIOSYS research group of the Institute for System Analysis and Computer Science «Antonio Ruberti» (IASI-CNR), where systems modelling meets the life sciences.

Research lines

Four directions, one common thread

From network reconstruction to disease mechanisms, each line contributes to a systems-level reading of gene regulation.

Transcriptional regulatory networks & TFBS analysis

Reconstruction and analysis of gene–transcription factor networks from experimental data and predicted transcription factor binding sites (TFBS), to identify key regulatory modules. With TRANSPARENT we detect over-represented transcription factors in disease-associated gene sets, under rigorous statistical control.

Core methods · graph inference · TFBS enrichment

Artificial intelligence & Transformer models for biological sequences

Deep learning and Transformer-based language models (e.g. DNABERT) applied to DNA, RNA and protein sequences: prediction of transcription factor binding sites directly from sequence, sequence representation learning, and reviews of the state of the art for nucleotide and protein sequence analysis.

Methods · deep learning · language models

Multi-omics integration

Methods to combine transcriptomics, epigenomics and genomics into predictive models, reconciling heterogeneous scales and data sources.

Data · NGS / bulk & single-cell

Systems biology & disease models

From molecular signature to mechanism: we apply network analysis to cancer, neurodegenerative diseases (ALS, multiple sclerosis) and other complex disorders to generate hypotheses that can be tested in the lab.

Applications · translational
Team

The people of the group
Strictly in alphabetical order by name

An interdisciplinary team spanning biology, neuroscience, computer science, mathematics and statistics. We always look for curiosity and rigour, in equal measure.

Cinzia Volonté

Cinzia Volonté

Research Director

Neuroscientist working on neurodegeneration and neuroinflammation in CNS diseases, mainly ALS and multiple sclerosis; purinergic and histaminergic signalling; preclinical pharmacology in primary cultures, cell lines, Drosophila and mouse models.

Daniele Santoni

Daniele Santoni

Group leader · Senior Researcher

Computational biology; discrete mathematics and graph theory applied to biological systems, with a focus on transcription factors, gene regulation and deep learning for TFBS prediction. Degree in Mathematics, Master in Bioinformatics, PhD in Genetics and Molecular Biology; at IASI-CNR since 2011.

Eleonora Ottaviani

Eleonora Ottaviani

Research fellow · PhD student in Automatic Control, Bioengineering and Operations Research, Sapienza University of Rome

NGS data analysis, transcriptional regulatory networks and Transformer-based language models for biological sequences.

Federica Conte

Federica Conte

Researcher

Systems biology and bioinformatics: network medicine, multi-omics data integration and computational/mathematical methods for the analysis of biomedical data in complex diseases.

Giovanni Felici

Giovanni Felici

Research Director · Director of IASI-CNR

Optimization models and algorithms, operations research, machine learning and artificial intelligence, with applications to bioinformatics; co-author of the group's work on deep learning and language models for biological sequences.

Kartika Celeschi

Kartika Celeschi

Research Fellow

Bachelor's degree in Biology and Master's degree in Bioinformatics, University of Rome Tor Vergata. Works on NGS data analysis, transcription factor binding site enrichment and development of the TRANSPARENT framework.

Best collaborators and friends

Working together, across borders

Researchers who are part of our family, with whom we share projects, papers, and ideas.

FCFabio Cumbo

Fabio Cumbo

Research Associate · Blankenberg Lab, Cleveland Clinic Research, USA

Cleveland, Ohio (USA). Bioinformatics, machine learning and hyperdimensional computing for microbial genomics and biomedical data; author of tools such as MetaSBT. Long-standing co-author on transcription factor synergism in humans.

cumbof.github.io ↗
NGNimisha Ghosh

Nimisha Ghosh

Faculty · Shiv Nadar University Chennai, India

Chennai (India). Deep learning and Transformer-based language models for nucleotide and protein sequences; co-author with the group on TFBS prediction (DNABERT-based frameworks, TFBS-Finder) and on the analysis of SARS-CoV-2.

Faculty page ↗
Publications

Recent research

A selection of the group's most recent work (2024–2026). The full list is available in the institutional repositories.

2026
A DNABERT based deep learning framework for predicting transcription factor binding sites
Dutta P., Ghosh N., Santoni D.
Scientific Reports, 16:7018 · doi:10.1038/s41598-026-37483-1
2026
Interleukin-9 Regulates NF-kB-Mediated Activation of Astrocytes in Multiple Sclerosis Brain
Cinotti M., Amadio S., Tidei D., … Volonté C., Volpe E.
Neurology: Neuroimmunology & Neuroinflammation · doi:10.1212/NXI.0000000000200537
2025
A review on the applications of Transformer-based language models for nucleotide sequence analysis
Ghosh N., Santoni D., Saha I., Felici G.
Computational and Structural Biotechnology Journal, 27:1244–1254 · doi:10.1016/j.csbj.2025.03.024
2025
A Comprehensive Review of Transformer-based language models for Protein Sequence Analysis and Design
Ghosh N., Santoni D., Nawn D., Ottaviani E., Felici G.
2025
Transcripts derived from AmnSINE1 repetitive sequences are depleted in the cortex of autism spectrum disorder patients
Sciaraffa N., Santoni D., Li Greci A., Genovese S.I., Coronnello C., Arancio W.
Frontiers in Bioinformatics · doi:10.3389/fbinf.2025.1532981
2025
Serine-Driven Metabolic Plasticity Drives Adaptive Resilience in Pancreatic Cancer Cells
Bonanomi M., Mallia S., Scalise M., … Conte F., … Metallo C.M., Gaglio D.
2025
TFBS-Finder: Deep Learning-based Model with DNABERT and Convolutional Networks to Predict Transcription Factor Binding Sites
Ghosh N., Dutta P., Santoni D.
2024
Predicting Transcription Factor Binding Sites with Deep Learning
Ghosh N., Santoni D., Saha I., Felici G.
International Journal of Molecular Sciences, 25(9):4990 · doi:10.3390/ijms25094990
2024
An entropy-based study on the mutational landscape of SARS-CoV-2 in USA: comparing different variants and revealing co-mutational behavior of proteins
Santoni D.
2024
An Integer Linear Programming Model to Optimize Coding DNA Sequences by Joint Control of Transcript Indicators
Arbib C., D'Ascenzo A., Rossi F., Santoni D.
Journal of Computational Biology · doi:10.1089/cmb.2023.0166
2024
A Closer Look at Histamine in Drosophila
Volonté C., Liguori F., Amadio S.
International Journal of Molecular Sciences · doi:10.3390/ijms25084449
2024
Correlation-based network integration of lung RNA sequencing and DNA methylation data in chronic obstructive pulmonary disease
Sibilio P., Conte F., Huang Y., Castaldi P.J., Hersh C.P., DeMeo D.L., Silverman E.K., Paci P.
2024
HDAC6 inhibition disrupts HDAC6-P300 interaction reshaping the cancer chromatin landscape
Zamperla M.G., Illi B., Barbi V., Cencioni C., Santoni D., … Gaetano C., Atlante S.
Clinical Epigenetics · doi:10.1186/s13148-024-01725-8
Contact

Let's talk

Interested in a collaboration, a thesis or a PhD with us? Get in touch — we are happy to reply.

Address
Institute for System Analysis and Computer Science «A. Ruberti» — CNR
Via dei Taurini, 19 — 00185 Rome, Italy
Email
daniele.santoni@iasi.cnr.it
Phone
+39 06 4993 7102
Web
www.iasi.cnr.it
Via dei Taurini 19