ICR96 exon CNV validation series

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 in BRCA1, BRCA2, TP53, MLH1, MSH2, MSH6, PMS2, EPCAM and PTEN, giving excellent representation of the cancer predisposition genes most frequently tested in clinical practice. Moreover, the validated exon CNVs include 25 single exon CNVs the most difficult exon CNV to detect.

本资源旨在评估针对靶向下一代测序（NGS）数据的外显子拷贝数变异（CNV）调用方法，在此，我们呈现了ICR96外显子CNV验证系列。该数据集包含了来自靶向NGS检测（TruSight癌症检测板）的高质量测序数据，以及与96个独立样本相关的多重连接依赖性探针扩增（MLPA）结果。其中66个样本至少包含一个经过验证的外显子CNV，而30个样本在26个基因中具有经过验证的外显子CNV阴性结果。数据集中包含BRCA1、BRCA2、TP53、MLH1、MSH2、MSH6、PMS2、EPCAM和PTEN等基因中的46个外显子CNVs，这些基因是临床实践中最常检测的癌症易感基因，提供了极佳的代表性。此外，经过验证的外显子CNVs中包括25个单外显子CNVs，这是最难检测的外显子CNVs。