Article

Atlas-CNV: a validated approach to call Single-Exon CNVs in the eMERGESeq gene panel

2018-09-27

Abstract excerpt

<h4>Purpose:</h4> To provide a validated method to confidently identify exon-containing copy number variants (CNVs), with a low false discovery rate (FDR), in targeted sequencing data from a clinical laboratory with particular focus on single-exon CNVs. <h4>Methods:</h4> DNA sequence coverage data are normalized within each sample and subsequently exonic CNVs are identified in a batch of samples (midpool), when...

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Literature Corpus work: 09bc2caf-3e7c-5115-8468-8d311246f68a
DOI: 10.1101/422337

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