Precise breakpoint localization of large genomic deletions using PacBio and Illumina next-generation sequencers. (February 2013)

• Record Type: Journal Article
• Authors: Okoniewski, Michal J; Meienberg, Janine; Patrignani, Andrea; Szabelska, Alicja; Matyas, Gabor; Schlapbach, Ralph
• Is Part Of: Biotechniques. Volume 54:Number 2(2013)
• Page Start: 98
• Page End: 100
• Publication Date: 2013-02
• Subjects: sequencing -- large deletions -- amplicons -- PacBio -- Illumina -- Sanger; Biology, Experimental -- Periodicals; Molecular biology -- Periodicals; Medical technology -- Periodicals; Biology, Experimental; Medical technology; Molecular biology; Clinical Laboratory Techniques -- Periodicals; Research -- Periodicals; Medical Laboratory Science -- Periodicals; Periodicals; Electronic journals; 570
• DOI: 10.2144/000113992
• Languages: English
• ISSNs: 0736-6205

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.