Silva, CatarinaMarques, BárbaraPedro, SóniaCorreia, HildebertoVieira, Luís2019-03-012019-03-012018-11http://hdl.handle.net/10400.18/6023Objectives/Context: Nanopore sequencing is a recent technology which allows direct sequencing of DNA. It uses an ionic current to move DNA strands through nanopores embedded in an electrically-resistant membrane. The changes in nanopore signals are recorded by an ASIC chip placed below the membrane and translated into a specific base sequence. Nanopore sequencing provides a better alternative than short-read technologies to identify structural variants (SV) because of the ability to sequence entire DNA molecules. In this work we performed nanopore sequencing of a tumour genome to detect several types of SV.engNanopore SequencingTumour GenomeBioinformaticsTecnologias de Análise de DNASequencing of DNADoenças Genéticasconference object