Exome sequencing offers sequencing coverage of protein-coding targets and other specific regions of interest. Typically, exome sequencing covers only about 1–2% of the genome. While this makes the analysis of an individual’s genetics more efficient than sequencing the whole genome, it excludes large regions between genes and other genetic elements from downstream analysis. This can make detecting copy number variations (CNVs), an important driver in many genetic diseases, difficult from exome sequencing alone, where probes are not regularly tiled.

Twist’s CNV Backbone Spike-in Panels provide a simple way of adding CNV analysis to your exome sequencing by increasing the resolution of CNV calls.