Non-invasive prenatal testing (NIPT) by low coverage genomic sequencing: Detection limits of screened chromosomal microdeletions

To study the detection limits of chromosomal microaberrations in non-invasive prenatal testing with aim for five target microdeletion syndromes, including DiGeorge, Prader-Willi/Angelman, 1p36, Cri-Du-Chat, and Wolf-Hirschhorn syndromes. We used known cases of pathogenic deletions from ISCA database...

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Veröffentlicht in:PLoS One
Hauptverfasser: Kucharik, Marcel, Gnip, Andrej, Hyblova, Michaela, Budis, Jaroslav, Strieskova, Lucia, Harsanyova, Maria, Pös, Ondrej, Kubiritova, Zuzana, Radvanszky, Jan, Minarik, Gabriel, Szemes, Tomas
Format: Artigo
Sprache:Inglês
Veröffentlicht: Public Library of Science 2020
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Research Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7449492/
https://ncbi.nlm.nih.gov/pubmed/32845907
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0238245
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