Low-pass genome sequencing versus chromosomal microarray analysis: implementation in prenatal diagnosis

PURPOSE: Emerging studies suggest that low-pass genome sequencing (GS) provides additional diagnostic yield of clinically significant copy-number variants (CNVs) compared with chromosomal microarray analysis (CMA). However, a prospective back-to-back comparison evaluating accuracy, efficacy, and inc...

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Detalles Bibliográficos
Autores principales: Wang, Huilin, Dong, Zirui, Zhang, Rui, Chau, Matthew Hoi Kin, Yang, Zhenjun, Tsang, Kathy Yin Ching, Wong, Hoi Kin, Gui, Baoheng, Meng, Zhuo, Xiao, Kelin, Zhu, Xiaofan, Wang, Yanfang, Chen, Shaoyun, Leung, Tak Yeung, Cheung, Sau Wai, Kwok, Yvonne K., Morton, Cynthia C., Zhu, Yuanfang, Choy, Kwong Wai
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7042067/
https://www.ncbi.nlm.nih.gov/pubmed/31447483
http://dx.doi.org/10.1038/s41436-019-0634-7

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