Study
Comparison of the diagnostic yield of aCGH and NGS across different neurodevelopmental disorders
Study ID | Alternative Stable ID | Type |
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EGAS00001004949 | Other |
Study Description
Current 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). The present study compares the diagnostic yield obtained by aCGH and clinical exome sequencing in NDD globally and its spectrum of disorders. To that end, 1412 patients clinically diagnosed with NDDs and studied with aCGH were classified into phenotype categories: Global developmental delay/intellectual disability (GDD/ID); autism spectrum disorder (ASD); and Other NDDs. These categories were further subclassified into subcategories, based on the most frequent accompanying signs and symptoms: isolated forms, forms with epilepsy; forms with micro or macrocephaly and syndromic forms. A subset of 245 patients of the 1412 were subjected to clinical exome sequencing. Diagnostic yield of aCGH and clinical exome sequencing, expressed as the number of solved cases, was compared for each phenotype category and subcategory. Clinical exome ... (Show More)
Study Datasets 1 dataset.
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Dataset ID | Description | Technology | Samples |
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EGAD00001006917 |
Project Neurodevelopmental Disorders 245 Samples
|
NextSeq 500 | 245 |
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