Comparison of large deletions amplicon sequencing on Illumina and PacBio

This study presents the applicability of single molecule (PacBio RS) and second generation sequencing technology (Illumina) to the characterization of large genomic deletions. methods have been tested on samples previously characterized using a Sanger approach. By the means of both next generation sequencing platforms, we were able to identify the position of deletion breakpoints. The obtained results point out various advantages of next generation sequencing platforms, while special attention must be dedicated to identical sequences flanking the breakpoints, such as a poly(N) motif.