Cancer genomics and transcriptomics



The computational genomics laboratory ( led by Prof. Bortoluzzi works in the fields of computational biology, bioinformatics and systems biology applied to the study of genome and transcriptome variation in cancer and disease.
The group has acquired expertise in systems biology since 2000, and has a long experience in NGS (Next Generation Sequencing) for transcriptome and genome analysis. It also has a deep know-how regarding microRNAs and other non-canonical small RNAs and on circular RNA biology and bioinformatics.
The most relevant accomplishments of the group include development of software and web tools for transcriptome analysis and regulatory network reconstruction; studies on microRNAs in multiple myeloma and in myeloproliferative neoplasms, and description of genomic landscape in solid cancer, like neuroblastoma, and acute and chronic hematological malignancies (Juvenile Myelomonocytic Leukemia and Large granular lymphocyte leukemia). Many of the papers were published in top journals, with also cover page.

Research projects

Current projects focus on several points:

  • Methods for functional prioritization of genome variants.
  • Characterization of cancer-derived exosome RNA content from patients with lymphoma and leukemia.
  • Study of circular RNAs in normal and malignant haematopoiesis.
  • Continuous implementation and development of bioinformatic methods and software implementation.
  • Big data management from NGS technology.

Moreover the relevance of these studies is linked to the potential of exosomes derived from cancer cell to favor disease progression and metastasis. These results, could be in the near future used for precision medicine. The study of CircRNA in leukemia aims at discovering new disease mechanisms and unveiling the roles of these molecules in normal and in malignant cells.

The group is supported by several funding agencies (AIRC, MIUR, Cariparo Excellence), pediatric research projects and international collaborations.


The national and international placement of the group is characterized by past and present important collaborations and joint publications (mainly in cancer research field) with co-authors of over 15 different countries.
Main collaborations:

  • Prof. C. Romualdi, Dr. G. Vazza (Department of Biology, University of Padova)
  • Prof. G. Te Kronnie, Prof. G. Basso, Dr. Silvia Bresolin, Dr. L. Mussolin, Prof. G. Bisogno, Dr. Maddalena Paganin (Department of Women and Children Health, University of Padova and IRP Pediatric Research Institute)
  • Prof. G. Semenzato, Prof. R. Zambello (Department of Medicine, University of Padova)
  • Prof. AM. Vannucchi, Dr. P. Guglielmelli (Center of Research and Innovation of Myeloproliferative Neoplasms, AOU Careggi, University of Florence)
  • Prof. A. Neri (University of Milan, Oncology and Hemato Oncology Department)
  • Prof. S. Mustjoki (Hematology Research Unit, University of Helsinki, Finland)
  • Dr. L.H. Meyer (University of Ulm, Germany)
  • Prof. P. Van Vlierberghe (Department of Biomolecular Medicine, Cancer Research Institute Ghent, Ghent University).

Working place

viale G. Colombo 3, 35131 Padova, Italy
Phone +39 049 827 6502
Fax +39 049 827 6209
Google Maps

Group Leader

Prof.ssa Stefania Bortoluzzi


  • Dr. Alessandro Coppe (Assistant professor; Genomics and Bioinformatics)
  • Dr. Enrico Gaffo (Post-doc; Bioinformatics, Transcriptomics, Small RNAs, Circular RNAs)
  • Dr. Anna Dal Molin (Post-doc; Bioinformatics, Transcriptomics, Circular RNAs)
  • Dr. Andrea Binatti (Post-doc; Genomics and Bioinformatics)
  • Dr. Elena Boldrin (PhD student; Molecular Biology, MicroRNAs, PDX mouse models)
  • Dr. Piero Di Battista (PhD student; Bioinformatics, Exosomes, small RNAs)
  • Dr. Alessia Buratin (PhD student; Statistics and Bioinformatics)


    • Valeria Difilippo (Student, Laurea Magistrale in Biotecnologie Industriali)
    • Marica Tonetto (Student, Laurea Magistrale in Biologia Evoluzionistica)