Identification of innovative drug discovery targets from genome bioinformatics analyses
This topic is part of the project of Spoke 8 "In Silico Medicine & Omics Data" by ICSC - National Center HPC, Big data and Quantum Computing". The research activity includes the application and the development of advanced bioinformatics and computational genomics methods to (i) unmask patterns of genomic variation and (ii) unravel the structure/function of understudied, “dark”, genes which can be related to the onset of specific disease states with an inflammatory component, or characterized by tumor onset,imbalance in neurotransmission or neuro-degeneration.
Implementation of computational infrastructures and development of bioinformatics tools for the management and analysis of biological Big data
The project is funded within the European project H2020-CIRCLES. The research topics include: 1) the development of computational methods, including on artificial intelligence and machine learning approaches, for the annotation of structural and functional characteristics of genes, proteins and their variants; 2) the development of computational models for the characterization of complex biological processes through the integration of heterogeneous data, including genomic, metagenomic and proteomic data; 3) the development and maintenance of computational infrastructures that host computational databases and pipelines. The tools will be applied to the analysis of metagenomics data.
Implementation and curation of databases and tools for bioinformatics
eDGAR (edgar.biocomp.unibo.it), a resource for collecting and organizing data on gene-disease associations, for investigating the relations among genes associated with polygenic or heterogeneous disease.
PhenPath (phenpath.biocomp.unibo.it), a resource for associating phenotypes to biological pathways, and for the comparison of the genes/diseases/biological processes associated with different phenotypes.
International challenges for the critical assessment of bioinformatics resources
Participating in CAGI (Critical Assessment of Genome Interpretation) and in CAFA (Critical Assessment of Functional Annotation), ranking her methods among the top-scoring.
Consultancy for the study of the genotype-phenotype relationships
Supporting the activities of research groups engaged in the identification of genes and mutations associated with specific phenotypes, such as radiation protection, hibernation, sensitivity to cosmic and deep-space radiation, studied in various organisms (including rats, mice and humans).
Protein modelling for disease case study
Applying techniques for protein modelling in real case studies, investigating the structural/functional properties of a protein to endow it with new features; in particular, HTT for Huntington disease and MYO1F for thyroid cancer.
