Two by two table comparison of the diagnostic performance of digital sequencing to whole exome sequencing of the 54-gene panel.

Twenty samples at 78 kpbs per sample were sequenced with a single apparent false positive and no false negatives, resulting in 100% analytic sensitivity (at roughly 2.5% SNV mutant allele frequencies) and near-perfect 99.9999% specificity.

本研究对20份样本完成测序，每份样本的测序速率为78 kpbs，仅出现1例疑似假阳性，未检出假阴性结果。据此，在约2.5%的单核苷酸变异（Single Nucleotide Variant）突变等位基因频率条件下，该方法实现了100%的分析灵敏度，同时获得了接近完美的99.9999%特异性。