Diagnostic Yields of Trio-WES Accompanied by CNVseq for Rare Neurodevelopmental Disorders

OBJECTIVE: This study is to investigate the diagnostic yield of the combination of trio whole exome sequencing (Trio-WES) and copy number variation sequencing (CNVseq) for rare neurodevelopmental disorders (NDDs). METHODS: Clinical data from consecutive pediatric patients who were diagnosed with rar...

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Detalles Bibliográficos
Autores principales: Gao, Chao, Wang, Xiaona, Mei, Shiyue, Li, Dongxiao, Duan, Jiali, Zhang, Pei, Chen, Baiyun, Han, Liang, Gao, Yang, Yang, Zhenhua, Li, Bing, Yang, Xiu-An
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6542989/
https://www.ncbi.nlm.nih.gov/pubmed/31178897
http://dx.doi.org/10.3389/fgene.2019.00485

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6542989/
https://www.ncbi.nlm.nih.gov/pubmed/31178897
http://dx.doi.org/10.3389/fgene.2019.00485

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