Accuracy and depth evaluation of clinical low pass genome sequencing in the detection of mosaic aneuploidies and CNVs

BACKGROUND: Low-pass genome sequencing (LP GS) has shown distinct advantages over traditional methods for the detection of mosaicism. However, no study has systematically evaluated the accuracy of LP GS in the detection of mosaic aneuploidies and copy number variants (CNVs) in prenatal diagnosis. Mo...

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Detalles Bibliográficos
Autores principales: Liu, Yanqiu, Hao, Shengju, Guo, Xueqin, Fan, Linlin, Qiao, Zhihong, Wang, Yaoshen, Wang, Xiaoli, man, Jianfen, Wang, Lina, Wei, Xiaoming, Peng, Huanhuan, Peng, Zhiyu, Sun, Yan, Song, Lijie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10656965/
https://www.ncbi.nlm.nih.gov/pubmed/37978521
http://dx.doi.org/10.1186/s12920-023-01703-8

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