Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort

BACKGROUND: Developmental disorders (DDs) are early onset disorders affecting 5%–10% of children worldwide. Chromosomal microarray analysis detecting CNVs is currently recommended as the first-tier test for DD diagnosis. However, this analysis omits a high percentage of disease-causing single nucleo...

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Detalles Bibliográficos
Autores principales: Dong, Xinran, Liu, Bo, Yang, Lin, Wang, Huijun, Wu, Bingbing, Liu, Renchao, Chen, Hongbo, Chen, Xiang, Yu, Sha, Chen, Bin, Wang, Sujuan, Xu, Xiu, Zhou, Wenhao, Lu, Yulan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2020
Materias:
Diagnostics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7418612/
https://www.ncbi.nlm.nih.gov/pubmed/32005694
http://dx.doi.org/10.1136/jmedgenet-2019-106377

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