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Investigation on combined copy number variation sequencing and cytogenetic karyotyping for prenatal diagnosis
BACKGROUND: We aimed to evaluate the clinical value of copy number variation-sequencing (CNV-Seq) in combination with cytogenetic karyotyping in prenatal diagnosis. METHODS: CNV-Seq and cytogenetic karyotyping were performed in parallel for 9452 prenatal samples for comparison of the diagnostic perf...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8265053/ https://www.ncbi.nlm.nih.gov/pubmed/34238233 http://dx.doi.org/10.1186/s12884-021-03918-y |