Journal
BIOTECHNIQUES
Volume 54, Issue 2, Pages 100-U50Publisher
BIOTECHNIQUES OFFICE
DOI: 10.2144/000113992
Keywords
sequencing; large deletions; amplicons; PacBio; Illumina; Sanger
Funding
- FGCZ
- Gottfried & Julia Bangerter-Rhyner-Stiftung
- Jubilaumsstiftung Swiss Life
- Foundation for People with Rare Diseases
- Clinical Research Priority Program (CRPP/KFSP-MS) of University of Zurich
- Sciex.ch [11.182]
- COFRA Foundation
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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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