Human Genetics 3 - Molecular Technology and Informatics for Personalised Medicine and Health

This program aims to better understand genotype - phenotype relationships in humans and in disease models, and to predict predisposition to and progression of disease by means of bio-M.I.S. (molecular, informatic, and semantic) approaches. We see increasing opportunities for data-driven research. These extend beyond conventional research, diagnosis, screening and therapy methods, and include innovative -omics technologies (genomics, epigenomics, transcriptomics, proteomics and metabolomics), and bioinformatic and biosemantic analyses. We focus on the use of next-generation sequencing (NGS) technology followed by integrative semantic data analysis to unravel unsolved genetic diseases; to study the regulation of the genomic organisation and gene expression; to identify the genetic basis of genome instability, to understand genome evolution and population differentiation; and on the use of ‘In silico Knowledge Discovery’ tools to support the above strategies.