Clinical Technoshot: Single Molecule Program

The aims of this program  are: i) to favor dissemination of the single molecule technology among our scientists and ii) to further develop this technology for clinical applications.

• Technology Dissemination. We have previously set-up the single-molecule technology (nanopore sequencing using Oxford Nanopore Technologies), which is executed within our Genomics Unit. We have now launched eight projects, supported by the Department, each run by an individual PI, which aim at exploiting different usages of the single-molecule sequencing technologies (Sequencing of NGS-problematic regions; Structural variant characterization; Direct detection of epigenetic marks in native DNA or RNA) within specific scientific contexts. The department guarantees help in data analyses through collaborations with experts in the field.
  
• Technology development. We aim at developing a robust assay for calling somatic mutations within transcripts at single-cell level, by combining single cell and single molecule RNA and cDNA sequencing (10x Chromium and Oxford Nanopore Technologies).