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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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2019
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Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6565572/
https://ncbi.nlm.nih.gov/pubmed/31004415
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.674
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