July 7, 2019  |  

Precise breakpoint localization of large genomic deletions using PacBio and Illumina next-generation sequencers.

Authors: Okoniewski, Michal J and Meienberg, Janine and Patrignani, Andrea and Szabelska, Alicja and Matyas, Gabor and Schlapbach, Ralph

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.

Journal: BioTechniques
DOI: 10.2144/000113992
Year: 2013

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