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

ABSTRACT: 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 and/or in-house data due to a lack of publicly-available datasets with orthogonally generated results. This hinders tool comparisons, transparency and reproducibility. To provide a community resource for assessment of exon CNV calling methods in targeted NGS data, we here present the ICR96 exon CNV validation series. The dataset includes high-quality sequencing data from a targeted

SUBMITTER: Mahamdallie S 

PROVIDER: S-EPMC5473400 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature