A dataset compiled as a resource a for orthogonal assessment of exon CNV calling in NGS data
|Study ID||Alternative Stable ID||Type|
Study Datasets 1 dataset.
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A 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 NGS assay (the TruSight Cancer Panel) together with Multiplex Ligation-dependent Probe Amplification (MLPA) results for 96 independent samples. 66 samples contain at least one validated exon CNV and 30 samples have validated negative results for exon CNVs in 26 genes. The dataset includes 46 exon CNVs ... (Show More)
|Illumina HiSeq 2500||96|