Comparison of the diagnostic yield of aCGH and genome-wide sequencing across different neurodevelopmental disorders

Most consensus recommendations for the genetic diagnosis of neurodevelopmental disorders (NDDs) do not include the use of next generation sequencing (NGS) and are still based on chromosomal microarrays, such as comparative genomic hybridization array (aCGH). This study compares the diagnostic yield...

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Detalles Bibliográficos
Autores principales: Martinez-Granero, Francisco, Blanco-Kelly, Fiona, Sanchez-Jimeno, Carolina, Avila-Fernandez, Almudena, Arteche, Ana, Bustamante-Aragones, Ana, Rodilla, Cristina, Rodríguez-Pinilla, Elvira, Riveiro-Alvarez, Rosa, Tahsin-Swafiri, Saoud, Trujillo-Tiebas, Maria Jose, Ayuso, Carmen, Rodríguez de Alba, Marta, Lorda-Sanchez, Isabel, Almoguera, Berta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7994713/
https://www.ncbi.nlm.nih.gov/pubmed/33767182
http://dx.doi.org/10.1038/s41525-021-00188-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7994713/
https://www.ncbi.nlm.nih.gov/pubmed/33767182
http://dx.doi.org/10.1038/s41525-021-00188-7

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