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

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

Abstract 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 diagnost...

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Bibliographic Details
Main Authors: Francisco Martinez-Granero, Fiona Blanco-Kelly, Carolina Sanchez-Jimeno, Almudena Avila-Fernandez, Ana Arteche, Ana Bustamante-Aragones, Cristina Rodilla, Elvira Rodríguez-Pinilla, Rosa Riveiro-Alvarez, Saoud Tahsin-Swafiri, Maria Jose Trujillo-Tiebas, Carmen Ayuso, Marta Rodríguez de Alba, Isabel Lorda-Sanchez, Berta Almoguera
Format: Article
Language:English
Published: Nature Publishing Group 2021-03-01
Series:npj Genomic Medicine
Online Access:https://doi.org/10.1038/s41525-021-00188-7

Internet

https://doi.org/10.1038/s41525-021-00188-7

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