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Noninvasive prenatal testing for fetal subchromosomal copy number variations and chromosomal aneuploidy by low‐pass whole‐genome sequencing

BACKGROUND: Expanding noninvasive prenatal testing (NIPT) to include the detection of fetal subchromosomal copy number variations (CNVs) significantly decreased the sensitivity and specificity. Developing analytic pipeline to achieve high performance in the noninvasive detection of CNVs will largely...

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Detalles Bibliográficos
Autores principales: Yu, Dongyi, Zhang, Kai, Han, Meiyan, Pan, Wei, Chen, Ying, Wang, Yunfeng, Jiao, Hongyan, Duan, Ling, Zhu, Qiying, Song, Xiaojie, Hong, Yan, Chen, Chen, Wang, Juan, Hui, Feng, Huang, Linzhou, Chen, Chongjian, Du, Yang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6565572/
https://www.ncbi.nlm.nih.gov/pubmed/31004415
http://dx.doi.org/10.1002/mgg3.674