Omics Sciences
Human Health Genomics
Our research area supports translational and clinical research on both local and international levels. Our team is deeply involved in high-throughput genomics and transcriptomics screenings, with a focus on rare genetic diseases and cancer. We participate in several European networks, offering our clinical bioinformatics expertise. Within our internal collaborations, we have prominent members who serve as core representatives in the Molecular Tumor Board Disease Unit. We provide high-profile scientific support and expertise, combined with technical bioinformatics skills. Our mission is to actively support clinical research, aiming to develop better tools for disease prevention, early detection, and treatment.
Research activity
The Human Health Genomics area currently works at several projects:
- Multicentric studies, sponsored by Alliance Against Cancer: ACC Precision Medicine, ACC Cholangiocarcinoma, ACC Lung stage III, ACC Lung stage IV
- Health Big Data-ACC development of a multicentric virtual MTB platform. In collaboration with IRCCS Regina Elena.
- DigiOneI3-WP3. Identification and biomarkers extraction from Real Word data.
- 1MG WG9 and GDI PIII: development of cancer use cases
- CAN.HEAL consortium Molecular Tumor Board (MTB) recommendations
- Rete IDEA (Associazione Rete Italiana salute Dell’Età evolutivA)
- Early diagnosis detection of putative lung cancer biomarkers in high-risk population. Study coordinated by Prof. Giulia Veronesi.
- Detection of genetic determinants for major depressive disorder heterogeneity
- Multidimensional Esophageal cancer immune profiling to identify predictive biomarkers of response to therapy
- Multiomics (genomics, transcriptomics, spatial omics) data analysis and integration for comprehensive molecular characterization of the tumor and its microenvironment.
Pallocca, M., Betti, M., Baldinelli, S., Palombo, R., Bucci, G., Mazzarella, L., Tonon, G., & Ciliberto, G. (2024). Clinical bioinformatics desiderata for molecular tumor boards. Briefings in Bioinformatics, 25(5), bbae447.
Riba, M., Sala, C., Culhane, A. C., Flobak, Å., Patocs, A., Boye, K., Plevova, K., Pospíšilová, Š., Gandolfi, G., Morelli, M. J., Bucci, G., Edsjö, A., Lassen, U., Al-Shahrour, F., Lopez-Bigas, N., Hovland, R., Cuppen, E., Valencia, A., Poirel, H. A., … Tonon, G. (2024). The 1+Million Genomes Minimal Dataset for Cancer. In Nature Genetics (Vol. 56, Issue 5, pp. 733–736). Nature Research.
Vanella, G., Felici, C., di Sario, G., Lazarevic, D., Rossella, V., Maurizio, A., Apadula, L., Bucci, G., Tonon, G., Doglioni, C., & others. (2024). OC. 12.6: Eus-guided portal vein sampling for isolation and characterization of circulating tumour cells in pancreatic cancer patients (euphoric): a pilot prospective study. Digestive and Liver Disease, 56, S191.
Vozza, G., Bonetti, E., Tini, G., Favalli, V., Frigè, G., Bucci, G., de Summa, S., Zanfardino, M., Zapelloni, F., & Mazzarella, L. (2023). Benchmarking and improving the performance of variant-calling pipelines with RecallME. Bioinformatics, 39(12), btad722.
Riva, S. T., Ogliari, F. R., Cangi, M. G., Bucci, G., Foggetti, G., Ferrara, R., Pecciarini, L., Oresti, S., Viganò, M. G., Damiano, G., & others. (2023). EGFR variant allele frequency (VAF) impacts on metastatic NSCLC patients outcome during first-line osimertinib. ESMO Open, 8(1).
Arbore, G., Albarello, L., Bucci, G., Punta, M., Cossu, A., Fanti, L., Maurizio, A., di Mauro, F., Bilello, V., Arrigoni, G., & others. (2023). Preexisting immunity drives the response to neoadjuvant chemotherapy in esophageal adenocarcinoma. Cancer Research, 83(17), 2873–2888.
Lazzari, C., Bulotta, A., Cangi, M. G., Bucci, G., Pecciarini, L., Bonfiglio, S., Lorusso, V., Ippati, S., Arrigoni, G., Grassini, G., & others. (2020). Next generation sequencing in non-small cell lung cancer: pitfalls and opportunities. Diagnostics, 10(12), 1092.
