Fig. 1: Performance of filtering criteria commonly used during variant calling in next-generation sequencing (NGS). | Genetics in Medicine

Fig. 1: Performance of filtering criteria commonly used during variant calling in next-generation sequencing (NGS).

From: Development of an evidence-based algorithm that optimizes sensitivity and specificity in ES-based diagnostics of a clinically heterogeneous patient population

Fig. 1

a Distribution of Sanger-confirmed vs. Sanger-rejected variants in our data set. b Modeling of the effects of standard panel- and exome sequencing (ES)-associated filtering cutoffs. c Contribution of individual parameters to the drop in sensitivity (stippled and dotted gray lines: common cutoffs for panel-based and ES-based approaches, respectively; solid gray lines: cutoffs initially used by the present study). The asterisk denotes that sensitivity as indicated here is not equivalent to the (unknown) overall sensitivity of the assay, but refers to our set of 1048 Sanger followed-up candidate variants

Back to article page