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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書誌詳細
出版年:Genet Med
主要な著者: 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
フォーマット: Artigo
言語:Inglês
出版事項: 2019
主題:
Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC7042067/
https://ncbi.nlm.nih.gov/pubmed/31447483
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-019-0634-7
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