Article

The ICR96 exon CNV validation series: a resource for orthogonal assessment of exon CNV calling in NGS data

2017-05-26

Abstract excerpt

Detection of deletions and duplications of whole exons (exon CNVs) is a key requirement of genetic testing. Accurate detection of this variant type has proved very challenging in targeted next-generation sequencing (NGS) data, particularly if only a single exon is involved. Many different NGS exon CNV calling methods have been developed over the last five years. Such methods are usually evaluated using simulated a...

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Literature Corpus work: 8e6861a2-a3ac-5e94-9b49-232b118656fb
DOI: 10.12688/wellcomeopenres.11689.1

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