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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Vydáno v:NPJ Genom Med
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group UK 2021
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Article
On-line přístup: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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