Five years’ experience of the clinical exome sequencing in a Spanish single center

Nowadays, exome sequencing is a robust and cost-efficient genetic diagnostic tool already implemented in many clinical laboratories. Despite it has undoubtedly improved our diagnostic capacity and has allowed the discovery of many new Mendelian-disease genes, it only provides a molecular diagnosis i...

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Detalles Bibliográficos
Autores principales: Arteche-López, A., Ávila-Fernández, A., Riveiro Álvarez, R., Almoguera, B., Bustamante Aragonés, A., Martin-Merida, I., López Martínez, M. A., Giménez Pardo, A., Vélez-Monsalve, C., Gallego Merlo, J., García Vara, I., Blanco-Kelly, F., Tahsin Swafiri, S., Lorda Sánchez, I., Trujillo Tiebas, M. J., Ayuso, C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9649665/
https://www.ncbi.nlm.nih.gov/pubmed/36357507
http://dx.doi.org/10.1038/s41598-022-23786-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9649665/
https://www.ncbi.nlm.nih.gov/pubmed/36357507
http://dx.doi.org/10.1038/s41598-022-23786-6

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