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 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 based on the most frequent accompanying signs and symptoms into isolated forms, forms with epilepsy; forms with micro/macrocephaly

SUBMITTER: Martinez-Granero F 

PROVIDER: S-EPMC7994713 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature