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

BioTechniques

Volumn 54, Issue 2, 2013, Pages 98-100

  Okoniewski, Michal J ^a,b   Meienberg, Janine ^c,d   Patrignani, Andrea ^a   Szabelska, Alicja ^a,e   Matyas, Gabor ^c,d   Schlapbach, Ralph ^a  

^a FUNCTIONAL GENOMICS CENTER ZURICH   (Switzerland)

^b UNIVERSITY HOSPITAL ZURICH   (Switzerland)

^c Center for Cardiovascular Genetics and Gene Diagnostics   (Switzerland)

^d UNIVERSITY OF ZURICH   (Switzerland)

^e POZNA UNIVERSITY OF LIFE SCIENCES   (Poland)

Author keywords

Amplicons; Illumina; Large deletions; PacBio; Sanger; Sequencing

Indexed keywords

ALLELE; ARTICLE; EHLERS DANLOS SYNDROME; GENE DELETION; GENE SEQUENCE; HUMAN; MARFAN SYNDROME; METHYLATION; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NONHUMAN; NUCLEOTIDE MOTIF; POLYMERASE CHAIN REACTION;

BASE SEQUENCE; CHROMOSOME BREAKPOINTS; COLLAGEN TYPE III; GENOMICS; HEMIZYGOTE; HUMANS; MICROFILAMENT PROTEINS; MODELS, GENETIC; MOLECULAR SEQUENCE DATA; SEQUENCE ANALYSIS, DNA; SEQUENCE DELETION;

EID: 84876480192     PISSN: 07366205     EISSN: 19409818     Source Type: Journal    
DOI: 10.2144/000113992     Document Type: Article

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