IGATech is keeping active in the human genomics field. After the D.NAMICA project in which we applied Whole Exome Sequencing to better understand the genetic characteristics of patients suffering dilatative cardiomyopathy, hepatocellular carcinoma and spinal muscular atrophy, we are moving to the next level by implementing Whole Genome Sequencing to redefine the diagnosis in breast cancer and in patients with behavioral, cognitive and developmental disorders.
We are going to use Illumina NGS approach coupled with linked reads produced by 10x GemCode Technology, which will allow for de novo reconstruction of individual genomes. The use of linked reads that provide long-range genomic linkage information will be particularly valuable for the analysis of the complex structural variation, which is a major driver of phenotypic variation and disease, still poorly understood because of its tendency to cluster in duplicated and repetitive regions of the genome that are not accessible by short-read sequencing technologies.
The effort is financed by the POR FESR 2014-2020 FVG and will be undertaken together with our partners University of Udine, Aviano's Oncological Reference Center, Alphagenics Biotech and Friuli Innovazione.