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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Bibliografske podrobnosti
izdano v:NPJ Genom Med
Main Authors: 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
Format: Artigo
Jezik:Inglês
Izdano: Nature Publishing Group UK 2021
Teme:
Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC7994713/
https://ncbi.nlm.nih.gov/pubmed/33767182
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41525-021-00188-7
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