Article
Detecting Low-Variant Allele Frequency Mosaic Pathogenic Variants of NF1, TSC2, and AKT3 Genes from Blood in Patients with Neurodevelopmental Disorders.
The Journal of molecular diagnostics : JMD - 1 Aug 2023
Kim Se Hee, Kwon Soon Sung, Park Mi Ri, Lee Hyeon Ah, Kim Ji Hun, Cha JiHoon, Kim Sangwoo, Baek Seung Tae, Kim Se Hoon, Lee Joon Soo, Kim Heung Dong, Choi Jong Rak, Lee Seung-Tae, Kang Hoon-Chul
Abstract excerpt
Growing evidence indicates that early and late postzygotic mosaicism can cause neurodevelopmental disorders (NDDs), but detection of low variant allele frequency (VAF) mosaic variants from blood remains a challenge. Data of 2162 patients with NDDs who underwent conventional genetic tests were reviewed and a deep sequencing was performed using a specifically designed mosaic next-generation sequencing (NGS) panel...
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