Simultaneous Detection of CNVs and SNVs Improves the Diagnostic Yield of Fetuses with Ultrasound Anomalies and Normal Karyotypes

The routine assessment to determine the genetic etiology for fetal ultrasound anomalies follows a sequential approach, which usually takes about 6–8 weeks turnaround time (TAT). We evaluated the clinical utility of simultaneous detection of copy number variations (CNVs) and single nucleotide variant...

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Detalhes bibliográficos
Publicado no:Genes (Basel)
Main Authors: Qi, Qingwei, Jiang, Yulin, Zhou, Xiya, Meng, Hua, Hao, Na, Chang, Jiazhen, Bai, Junjie, Wang, Chunli, Wang, Mingming, Guo, Jiangshan, Ouyang, Yunshu, Xu, Zhonghui, Xiao, Mengsu, Zhang, Victor Wei, Liu, Juntao
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2020
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7759943/
https://ncbi.nlm.nih.gov/pubmed/33255631
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes11121397
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