PREcision Diagnostics in Rare genetIC Diseases and Tumors - Long Read Sequencing

"DNA will be extracted from peripheral blood or from somatic tissues. In some cases a skin biopsy will be performed to obtain fibroblasts for further analysis (DNA/RNA extraction and preparation of cell culture for high-throughput genomic and epigenomic technique (Hi-C).~LRS will be performed on extracted DNA using Oxford Nanopore Technology by two different approaches:~* Target, in samples with monoallelic alterations in genes related to autosomal recessive disease;~* Genomic in other cases.~Sequencing data will be analyzed through a dedicated bioinformatics pipeline, to reconstruct the tridimensional structure of chromatin and the regions"