Utility of genome sequencing in exome‐negative pediatric patients with neurodevelopmental phenotypes
Tomoki T. Nomakuchi,
Eden Y. Teferedegn,
Dong Li
et al.
Abstract:Exome sequencing (ES) has emerged as an essential tool in the evaluation of neurodevelopmental disorders (NDD) of unknown etiology. Genome sequencing (GS) offers advantages over ES due to improved detection of structural, copy number, repeat number and non‐coding variants. However, GS is less commonly utilized due to higher cost and more intense analysis. Here, we present nine cases of pediatric NDD that were molecularly diagnosed with GS between 2017 and 2022, following non‐diagnostic ES. All individuals pres… Show more
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