Comparison of exon-level copy number variants in CytoScan XON assay and next-generation sequencing in clinical samples

•A CytoScan XON assay was developed to assess exon-level CNVs.•The assay detected 15 out of 23 small exon-level CNVs identified by NGS.•Three of the undetected exon level CNVs were false positives in the NGS results.•The assay could not detect the three exon-level CNVs in PKD1 and TSC2.•The assay is...

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Veröffentlicht in:	Clinica chimica acta 2024-06, Vol.560, p.119703-119703, Article 119703
Hauptverfasser:	Won, Dongju, Yeom, Eunju, Shin, Saeam, Lee, Seung‑Tae, Rak Choi, Jong
Format:	Artikel
Sprache:	eng
Schlagworte:	CytoScan XON assay DNA Copy Number Variations Exon-level copy number variants Exons - genetics High-Throughput Nucleotide Sequencing - methods Humans Multiplex ligation-dependent probe amplification Next-generation sequencing
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