Introduction
In addition to short variants, targeted sequencing can also be used to detect CNVs. This is usually performed by read depth analysis assuming that the number of sequenced DNA fragments is proportional to the copy number of a particular genomic locus. This approach is inaccurate in cases of small CNVs spanning only few or even a single exon. Target enrichment library designs developed by Agilent Technologies provide a solution to overcome this limitation by the inclusion of so-called “exon-proximal regions”.
