Performance and impact of clinical genome sequencing in patients with suspected rare genetic diseases in Peru
| dc.contributor.author | Thorpe, Erin | |
| dc.contributor.author | Duenas-Roque, Milagros | |
| dc.contributor.author | Cornejo-Olivas, Mario | |
| dc.contributor.author | Bazalar-Montoya, Jeny | |
| dc.contributor.author | Purizaca-Rosillo, Nelson | |
| dc.contributor.author | Rodriguez, Richard | |
| dc.contributor.author | Milla-Neyra, Karina | |
| dc.contributor.author | De La Torre-Hernandez, Carlos | |
| dc.contributor.author | Sarapura-Castro, Elison | |
| dc.contributor.author | Aima, Carolina Galarreta | |
| dc.contributor.author | Manassero-Morales, Gioconda | |
| dc.contributor.author | Chávez-Pasco, Giulliana | |
| dc.contributor.author | Celis-García, Luis | |
| dc.contributor.author | La Serna, Jorge | |
| dc.contributor.author | Taft, Ryan | |
| dc.date.accessioned | 2024-10-01T15:28:29Z | |
| dc.date.available | 2024-10-01T15:28:29Z | |
| dc.date.issued | 2024-01-01 | |
| dc.identifier.citation | Genetics in Medicine Open. 2024: 2(Supplement 1). | es_PE |
| dc.identifier.issn | 2949-7744 | |
| dc.identifier.uri | https://hdl.handle.net/20.500.12959/5161 | |
| dc.description.abstract | Molecular genetic testing has limited access in many regions across the world, especially in developing countries. The iHope program philanthropically provides clinical genome sequencing (cGS) to individuals with signs or symptoms of rare genetic diseases and limited or no access to molecular genetic testing. | es_PE |
| dc.format | application/pdf | es_PE |
| dc.language.iso | eng | es_PE |
| dc.publisher | Elsevier España | es_PE |
| dc.relation.uri | https://www.sciencedirect.com/science/article/pii/S2949774424006769 | es_PE |
| dc.rights | info:eu-repo/semantics/openAccess | es_PE |
| dc.rights.uri | https://creativecommons.org/licenses/by-nc-sa/4.0/ | es_PE |
| dc.subject | Pruebas Genéticas | es_PE |
| dc.subject | Predisposición Genética a la Enfermedad | es_PE |
| dc.subject | Enfermedades Raras | es_PE |
| dc.title | Performance and impact of clinical genome sequencing in patients with suspected rare genetic diseases in Peru | es_PE |
| dc.type | info:eu-repo/semantics/article | es_PE |
| dc.subject.ocde | https://purl.org/pe-repo/ocde/ford#3.01.02 | es_PE |
| dc.identifier.doi | https://doi.org/10.1016/j.gimo.2024.101530 |
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