Performance and impact of clinical genome sequencing in patients with suspected rare genetic diseases in Peru
Descripción del Articulo
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 geneti...
| Autores: | , , , , , , , , , , , , , , |
|---|---|
| Formato: | artículo |
| Fecha de Publicación: | 2024 |
| Institución: | Seguro Social de Salud |
| Repositorio: | ESSALUD-Institucional |
| Lenguaje: | inglés |
| OAI Identifier: | oai:repositorio.essalud.gob.pe:20.500.12959/5161 |
| Enlace del recurso: | https://hdl.handle.net/20.500.12959/5161 https://doi.org/10.1016/j.gimo.2024.101530 |
| Nivel de acceso: | acceso abierto |
| Materia: | Pruebas Genéticas Predisposición Genética a la Enfermedad Enfermedades Raras https://purl.org/pe-repo/ocde/ford#3.01.02 |
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| dc.title.es_PE.fl_str_mv |
Performance and impact of clinical genome sequencing in patients with suspected rare genetic diseases in Peru |
| title |
Performance and impact of clinical genome sequencing in patients with suspected rare genetic diseases in Peru |
| spellingShingle |
Performance and impact of clinical genome sequencing in patients with suspected rare genetic diseases in Peru Thorpe, Erin Pruebas Genéticas Predisposición Genética a la Enfermedad Enfermedades Raras https://purl.org/pe-repo/ocde/ford#3.01.02 |
| title_short |
Performance and impact of clinical genome sequencing in patients with suspected rare genetic diseases in Peru |
| title_full |
Performance and impact of clinical genome sequencing in patients with suspected rare genetic diseases in Peru |
| title_fullStr |
Performance and impact of clinical genome sequencing in patients with suspected rare genetic diseases in Peru |
| title_full_unstemmed |
Performance and impact of clinical genome sequencing in patients with suspected rare genetic diseases in Peru |
| title_sort |
Performance and impact of clinical genome sequencing in patients with suspected rare genetic diseases in Peru |
| author |
Thorpe, Erin |
| author_facet |
Thorpe, Erin Duenas-Roque, Milagros Cornejo-Olivas, Mario Bazalar-Montoya, Jeny Purizaca-Rosillo, Nelson Rodriguez, Richard Milla-Neyra, Karina De La Torre-Hernandez, Carlos Sarapura-Castro, Elison Aima, Carolina Galarreta Manassero-Morales, Gioconda Chávez-Pasco, Giulliana Celis-García, Luis La Serna, Jorge Taft, Ryan |
| author_role |
author |
| author2 |
Duenas-Roque, Milagros Cornejo-Olivas, Mario Bazalar-Montoya, Jeny Purizaca-Rosillo, Nelson Rodriguez, Richard Milla-Neyra, Karina De La Torre-Hernandez, Carlos Sarapura-Castro, Elison Aima, Carolina Galarreta Manassero-Morales, Gioconda Chávez-Pasco, Giulliana Celis-García, Luis La Serna, Jorge Taft, Ryan |
| author2_role |
author author author author author author author author author author author author author author |
| dc.contributor.author.fl_str_mv |
Thorpe, Erin Duenas-Roque, Milagros Cornejo-Olivas, Mario Bazalar-Montoya, Jeny Purizaca-Rosillo, Nelson Rodriguez, Richard Milla-Neyra, Karina De La Torre-Hernandez, Carlos Sarapura-Castro, Elison Aima, Carolina Galarreta Manassero-Morales, Gioconda Chávez-Pasco, Giulliana Celis-García, Luis La Serna, Jorge Taft, Ryan |
| dc.subject.es_PE.fl_str_mv |
Pruebas Genéticas Predisposición Genética a la Enfermedad Enfermedades Raras |
| topic |
Pruebas Genéticas Predisposición Genética a la Enfermedad Enfermedades Raras https://purl.org/pe-repo/ocde/ford#3.01.02 |
| dc.subject.ocde.es_PE.fl_str_mv |
https://purl.org/pe-repo/ocde/ford#3.01.02 |
| description |
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. |
| publishDate |
2024 |
| dc.date.accessioned.none.fl_str_mv |
2024-10-01T15:28:29Z |
| dc.date.available.none.fl_str_mv |
2024-10-01T15:28:29Z |
| dc.date.issued.fl_str_mv |
2024-01-01 |
| dc.type.es_PE.fl_str_mv |
info:eu-repo/semantics/article |
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article |
| dc.identifier.citation.es_PE.fl_str_mv |
Genetics in Medicine Open. 2024: 2(Supplement 1). |
| dc.identifier.issn.none.fl_str_mv |
2949-7744 |
| dc.identifier.uri.none.fl_str_mv |
https://hdl.handle.net/20.500.12959/5161 |
| dc.identifier.doi.none.fl_str_mv |
https://doi.org/10.1016/j.gimo.2024.101530 |
| identifier_str_mv |
Genetics in Medicine Open. 2024: 2(Supplement 1). 2949-7744 |
| url |
https://hdl.handle.net/20.500.12959/5161 https://doi.org/10.1016/j.gimo.2024.101530 |
| dc.language.iso.es_PE.fl_str_mv |
eng |
| language |
eng |
| dc.relation.uri.es_PE.fl_str_mv |
https://www.sciencedirect.com/science/article/pii/S2949774424006769 |
| dc.rights.es_PE.fl_str_mv |
info:eu-repo/semantics/openAccess |
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https://creativecommons.org/licenses/by-nc-sa/4.0/ |
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openAccess |
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https://creativecommons.org/licenses/by-nc-sa/4.0/ |
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application/pdf |
| dc.publisher.es_PE.fl_str_mv |
Elsevier España |
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reponame:ESSALUD-Institucional instname:Seguro Social de Salud instacron:ESSALUD |
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Seguro Social de Salud |
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ESSALUD |
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ESSALUD-Institucional |
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ESSALUD-Institucional |
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Thorpe, ErinDuenas-Roque, MilagrosCornejo-Olivas, MarioBazalar-Montoya, JenyPurizaca-Rosillo, NelsonRodriguez, RichardMilla-Neyra, KarinaDe La Torre-Hernandez, CarlosSarapura-Castro, ElisonAima, Carolina GalarretaManassero-Morales, GiocondaChávez-Pasco, GiullianaCelis-García, LuisLa Serna, JorgeTaft, Ryan2024-10-01T15:28:29Z2024-10-01T15:28:29Z2024-01-01Genetics in Medicine Open. 2024: 2(Supplement 1).2949-7744https://hdl.handle.net/20.500.12959/5161https://doi.org/10.1016/j.gimo.2024.101530Molecular genetic testing has limited access in many regions across the world, especially in developing countries. 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Nota importante:
La información contenida en este registro es de entera responsabilidad de la institución que gestiona el repositorio institucional donde esta contenido este documento o set de datos. El CONCYTEC no se hace responsable por los contenidos (publicaciones y/o datos) accesibles a través del Repositorio Nacional Digital de Ciencia, Tecnología e Innovación de Acceso Abierto (ALICIA).
La información contenida en este registro es de entera responsabilidad de la institución que gestiona el repositorio institucional donde esta contenido este documento o set de datos. El CONCYTEC no se hace responsable por los contenidos (publicaciones y/o datos) accesibles a través del Repositorio Nacional Digital de Ciencia, Tecnología e Innovación de Acceso Abierto (ALICIA).
