Article

Low-pass whole genome sequencing is a reliable and cost-effective approach for copy number variant analysis in the clinical setting

2023-06-01

Abstract excerpt

<h4>ABSTRACT</h4> We evaluated the performance of low-pass whole genome sequencing (LP-WGS) to detect copy number variants (CNVs) in clinical cytogenetics. DNA samples with known CNVs detected by chromosomal microarray analyses (CMA) were selected for comparison; our panel included 44 DNA samples (12 prenatal and 32 postnatal), comprising a total of 55 chromosome imbalances. The selected cases were chosen to provi...

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Literature Corpus work: 6a89ab26-b6ab-5750-bccc-24b04f02b442
DOI: 10.1101/2023.05.26.23290606

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