title: Precise breakpoint localization of large genomic deletions using PacBio and Illumina next-generation sequencers.
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.
authors: Functional Genomics Center Zurich, Zurich, Switzerland. michal.okoniewski@fgcz.ethz.ch
authors: Michal J
authors: MJ
authors: Okoniewski
authors: Janine
authors: J
authors: Meienberg
authors: Andrea
authors: A
authors: Patrignani
authors: Alicja
authors: A
authors: Szabelska
authors: Gabor
authors: G
authors: Matyas
authors: Ralph
authors: R
authors: Schlapbach
mesh_terms: D001483:Base Sequence; D056905:Chromosome Breakpoints; D024061:Collagen Type III / Q000235:genetics; D000071837:Fibrillins; D023281:Genomics; D057898:Hemizygote; D006801:Humans; D008840:Microfilament Proteins / Q000235:genetics; D008957:Models, Genetic; D008969:Molecular Sequence Data; D017422:Sequence Analysis, DNA / Q000379:methods*; D017384:Sequence Deletion
chemical_list: C439971:COL3A1 protein, human; D024061:Collagen Type III; D000071837:Fibrillins; D008840:Microfilament Proteins