Performances of NIPT for copy number variations at different sequencing depths using the semiconductor sequencing platform

OBJECTIVE: To evaluate the performance of noninvasive prenatal testing (NIPT) and NIPT-PLUS for the detection of genome-wide microdeletion and microduplication syndromes (MMSs) at different sequencing depths. The NIPT sequencing depth was 0.15X, and the data volume was 3 million reads; the NIPT-PLUS...

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Detalhes bibliográficos
Publicado no:Hum Genomics
Main Authors: Yang, Jiexia, Wu, Jing, Peng, Haishan, Hou, Yaping, Guo, Fangfang, Wang, Dongmei, Ouyang, Haoxin, Wang, Yixia, Yin, Aihua
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2021
Assuntos:
Primary Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8252301/
https://ncbi.nlm.nih.gov/pubmed/34215332
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40246-021-00332-5
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