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Evaluation of the clinical utility of extended non-invasive prenatal testing in the detection of chromosomal aneuploidy and microdeletion/microduplication

BACKGROUND: With the development of whole-genome sequencing technology, non-invasive prenatal testing (NIPT) has been applied gradually to screen chromosomal microdeletions and microduplications that cannot be detected by traditional karyotyping. However, in NIPT, some false positives and false nega...

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Detalles Bibliográficos
Autores principales: Tian, Weifang, Yuan, Yangyang, Yuan, Erfeng, Zhang, Linlin, Liu, Ling, Li, Ying, Guo, Jing, Cui, Xueyin, Li, Pengyun, Cui, Shihong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10466692/
https://www.ncbi.nlm.nih.gov/pubmed/37644576
http://dx.doi.org/10.1186/s40001-023-01285-2

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