Publication
Ultra-low coverage nanopore sequencing identifies thousands of structural variants in a tumor genome
| dc.contributor.author | Silva, Catarina | |
| dc.contributor.author | Marques, Bárbara | |
| dc.contributor.author | Pedro, Sónia | |
| dc.contributor.author | Correia, Hildeberto | |
| dc.contributor.author | Vieira, Luís | |
| dc.date.accessioned | 2019-03-01T12:12:55Z | |
| dc.date.available | 2019-03-01T12:12:55Z | |
| dc.date.issued | 2018-11 | |
| dc.description.abstract | 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. | pt_PT |
| dc.description.sponsorship | This work was supported by Toxomics and GenomePT project (POCI-01-0145-FEDER-022184). | pt_PT |
| dc.description.version | info:eu-repo/semantics/publishedVersion | pt_PT |
| dc.identifier.uri | http://hdl.handle.net/10400.18/6023 | |
| dc.language.iso | eng | pt_PT |
| dc.peerreviewed | yes | pt_PT |
| dc.subject | Nanopore Sequencing | pt_PT |
| dc.subject | Tumour Genome | pt_PT |
| dc.subject | Bioinformatics | pt_PT |
| dc.subject | Tecnologias de Análise de DNA | pt_PT |
| dc.subject | Sequencing of DNA | pt_PT |
| dc.subject | Doenças Genéticas | pt_PT |
| dc.title | Ultra-low coverage nanopore sequencing identifies thousands of structural variants in a tumor genome | pt_PT |
| dc.type | conference object | |
| dspace.entity.type | Publication | |
| oaire.citation.conferencePlace | Porto, Portugal | pt_PT |
| oaire.citation.title | 22ª Reunião Anual da Sociedade Portuguesa de Genética Humana - Molecular and Cytogenetics Club, 15-17 nov 2018 | pt_PT |
| rcaap.rights | embargoedAccess | pt_PT |
| rcaap.type | conferenceObject | pt_PT |