Detection of variations and identifying genomic breakpoints for large deletions in the LDLR by Ion Torrent semiconductor sequencing

Atherosclerosis

Volumn 230, Issue 2, 2013, Pages 249-255

  Faiz, Fathimath ^a   Allcock, Richard J ^a,b   Hooper, Amanda J ^a,b,c   van Bockxmeer, Frank M ^a,b  

^a UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^b ROYAL PERTH HOSPITAL   (Australia)

^c UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

Author keywords

Alu; Familial hypercholesterolaemia; Genomic breakpoint mapping; Ion Torrent PGM sequencing; Low density lipoprotein receptor

Indexed keywords

AMPLICON; ARTICLE; ARTIFACT; CHROMOSOME 19; CHROMOSOME BREAKAGE; CLINICAL ARTICLE; EXON; GENE DELETION; GENETIC SCREENING; GENETIC VARIABILITY; HAPLOTYPE; HUMAN; INTRON; MICROSATELLITE MARKER; MUTATION; PRIORITY JOURNAL; SEMICONDUCTOR; SEQUENCE HOMOLOGY;

ALU; FAMILIAL HYPERCHOLESTEROLAEMIA; GENOMIC BREAKPOINT MAPPING; ION TORRENT PGM SEQUENCING; LOW-DENSITY LIPOPROTEIN RECEPTOR;

ALTERNATIVE SPLICING; BASE SEQUENCE; COHORT STUDIES; COMPUTATIONAL BIOLOGY; DNA PRIMERS; EXONS; GENE DELETION; GENOMICS; HAPLOTYPES; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; MICROSATELLITE REPEATS; MOLECULAR SEQUENCE DATA; MUTATION; POLYMERASE CHAIN REACTION; RECEPTORS, LDL; RECOMBINATION, GENETIC; SEMICONDUCTORS; SEQUENCE ANALYSIS, DNA;

EID: 84884509092     PISSN: 00219150     EISSN: 18791484     Source Type: Journal    
DOI: 10.1016/j.atherosclerosis.2013.07.050     Document Type: Article

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