Exome sequencing offers sequencing coverage of protein-coding targets and other specific regions of interest. Typically, exome sequencing only covers about 1-2% of the bases in the genome.1,2 While this makes analysis of an individual’s genetics more efficient than sequencing the whole genome, it leaves large regions between these genes and genetic elements out of 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.