Ultra-low coverage nanopore sequencing identifies thousands of structural variants in a tumor genome

Silva, Catarina; Marques, Bárbara; Pedro, Sónia; Correia, Hildeberto; Vieira, Luís

http://hdl.handle.net/10400.18/6023

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Objectives/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.