Publication
Development of a Next-Generation Sequencing (NGS) Gene Panel for Lysosomal Storage Diseases
| dc.contributor.author | Coutinho, Maria Francisca | |
| dc.contributor.author | Encarnação, Marisa | |
| dc.contributor.author | Nogueira, Célia | |
| dc.contributor.author | Silva, Lisbeth | |
| dc.contributor.author | Ribeiro, Diogo | |
| dc.contributor.author | Alves, Sandra | |
| dc.date.accessioned | 2018-03-29T12:38:27Z | |
| dc.date.available | 2018-03-29T12:38:27Z | |
| dc.date.issued | 2017-03 | |
| dc.description.abstract | Molecular genetic testing has not been used extensively as the primary diagnostic test for LSDs but this may change with the advent of rapid, reliable and affordable high-throughput DNA sequencing, the so called next generation sequencing. The aim of this work was to develop a next-generation sequencing (NGS)-based workflow for the identification of variations in exons and their intronic flanking regions in genes involved in lysosomal function. | pt_PT |
| dc.description.sponsorship | This work was partially supported by N2020 (NORTE2020/DESVENDAR/DGH/jn2016). MFC is a grantee from the FCT (SFRH/BPD/101965/2014). | pt_PT |
| dc.description.version | N/A | pt_PT |
| dc.identifier.uri | http://hdl.handle.net/10400.18/5502 | |
| dc.language.iso | eng | pt_PT |
| dc.peerreviewed | yes | pt_PT |
| dc.subject | Lysosomal Storage Disorders (LSD) | pt_PT |
| dc.subject | Next Generation Sequencing | pt_PT |
| dc.subject | Doenças Lisossomais de Sobrecarga | pt_PT |
| dc.subject | Painéis de NGS | pt_PT |
| dc.subject | Doenças Genéticas | pt_PT |
| dc.title | Development of a Next-Generation Sequencing (NGS) Gene Panel for Lysosomal Storage Diseases | pt_PT |
| dc.type | conference object | |
| dspace.entity.type | Publication | |
| oaire.citation.conferencePlace | Évora, Portugal | pt_PT |
| oaire.citation.title | 13th International Symposium of SPDM (Sociedade Portuguesa de Doenças Metabólicas), 16-17 March 2017 | pt_PT |
| rcaap.rights | openAccess | pt_PT |
| rcaap.type | conferenceObject | pt_PT |