Both Whole Genome (WGS) and Whole Exome sequencing (WES) are now used in multiple avenues of clinical and scientific inquiry. Despite increased availability of these techniques and rapid decline of associated costs, their context-dependent per-base performance remained in question. The performance characteristics of WGS/WES include accuracy (the extent of agreement between the reference and the assay-derived nucleic sequence), precision which is broadly defined as repeatability for within-run precision and reproducibility for between-run precision as well as analytical sensitivity, specificity and a reportable range of the reference genome coverage [1]. While the repeatability issues were extensively presented in detail previously [2], the absence of scalable non-NGS (next-generation sequencing) techniques for genotype calling limits evaluations of accuracy.
