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Validation of Copy Number Variants Detection from Pregnant Plasma Using Low-Pass Whole-Genome Sequencing in Noninvasive Prenatal Testing-Like Settings

Detection of copy number variants as an integral part of noninvasive prenatal testing is increasingly used in clinical practice worldwide. We performed validation on plasma samples from 34 pregnant women with known aberrations using cell-free DNA sequencing to evaluate the sensitivity for copy numbe...

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Detalles Bibliográficos
Autores principales: Hyblova, Michaela, Harsanyova, Maria, Nikulenkov-Grochova, Diana, Kadlecova, Jitka, Kucharik, Marcel, Budis, Jaroslav, Minarik, Gabriel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7460070/
https://www.ncbi.nlm.nih.gov/pubmed/32784382
http://dx.doi.org/10.3390/diagnostics10080569