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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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Detalhes bibliográficos
Publicado no:Diagnostics (Basel)
Main Authors: Hyblova, Michaela, Harsanyova, Maria, Nikulenkov-Grochova, Diana, Kadlecova, Jitka, Kucharik, Marcel, Budis, Jaroslav, Minarik, Gabriel
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2020
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7460070/
https://ncbi.nlm.nih.gov/pubmed/32784382
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/diagnostics10080569
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