Performance Evaluation of NIPT in Detection of Chromosomal Copy Number Variants Using Low-Coverage Whole-Genome Sequencing of Plasma DNA

OBJECTIVES: The aim of this study was to assess the performance of noninvasively prenatal testing (NIPT) for fetal copy number variants (CNVs) in clinical samples, using a whole-genome sequencing method. METHOD: A total of 919 archived maternal plasma samples with karyotyping/microarray results, inc...

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Detalles Bibliográficos
Autores principales: Liu, Hongtai, Gao, Ya, Hu, Zhiyang, Lin, Linhua, Yin, Xuyang, Wang, Jun, Chen, Dayang, Chen, Fang, Jiang, Hui, Ren, Jinghui, Wang, Wei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2016
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4945049/
https://www.ncbi.nlm.nih.gov/pubmed/27415003
http://dx.doi.org/10.1371/journal.pone.0159233

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4945049/
https://www.ncbi.nlm.nih.gov/pubmed/27415003
http://dx.doi.org/10.1371/journal.pone.0159233

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