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


Okoniewski, Michal J; Meienberg, Janine; Patrignani, Andrea; Szabelska, Alicja; Matyas, Gabor; Schlapbach, Ralph (2013). Precise breakpoint localization of large genomic deletions using PacBio and Illumina next-generation sequencers. BioTechniques, 54(2):98-100.

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.

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.

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > Functional Genomics Center Zurich
04 Faculty of Medicine > Center for Integrative Human Physiology
Dewey Decimal Classification:570 Life sciences; biology
610 Medicine & health
Language:English
Date:2013
Deposited On:28 Mar 2013 10:00
Last Modified:21 Nov 2017 16:35
Publisher:Informa Healthcare
ISSN:0736-6205
Publisher DOI:https://doi.org/10.2144/000113992
PubMed ID:23384181

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