Integrated CNV-seq, karyotyping and SNP-array analyses for effective prenatal diagnosis of chromosomal mosaicism

BACKGROUND: Emerging studies suggest that low‐coverage massively parallel copy number variation sequencing (CNV-seq) more sensitive than chromosomal microarray analysis (CMA) for detecting low-level mosaicism. However, a retrospective back-to-back comparison evaluating accuracy, efficacy, and increm...

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Dades bibliogràfiques
Publicat a:BMC Med Genomics
Autors principals: Ma, Na, Xi, Hui, Chen, Jing, Peng, Ying, Jia, Zhengjun, Yang, Shuting, Hu, Jiancheng, Pang, Jialun, Zhang, Yanan, Hu, Rong, Wang, Hua, Liu, Jing
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2021
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7905897/
https://ncbi.nlm.nih.gov/pubmed/33632221
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12920-021-00899-x
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