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Updated: May 14, 2026

Using Next Generation Sequencing to Identify Mutations Associated with Repair of a CAS9-induced Double Strand Break Near the CD4 Promoter
Published on: March 31, 2022
Precise breakpoint localization of large genomic deletions using PacBio and Illumina next-generation sequencers
Michal J Okoniewski1, Janine Meienberg, Andrea Patrignani
1Functional Genomics Center Zurich, Zurich, Switzerland. michal.okoniewski@fgcz.ethz.ch
Abstract:
Herein we present the applicability of single-molecule (PacBio RS) and second-generation sequencing technology (Illumina) to the characterization of large genomic deletions. By testing samples previously characterized using a Sanger approach, our methods determined that both next-generation sequencing platforms were able to identify the position of deletion breakpoints. Our results point out various advantages of next-generation sequencing platforms when characterizing genomic deletions; however, special attention must be dedicated to identical sequences flanking the breakpoints, such as poly(N) motifs.

