Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa

Investigative Ophthalmology and Visual Science

Volumn 55, Issue 10, 2014, Pages 6213-6223

  Wang, Jing ^a   Zhang, Victor W ^a   Feng, Yanming ^a   Tian, Xia ^a   Li, Fang Yuan ^a   Truong, Cavatina ^a   Wang, Guoli ^a   Chiang, Pei Wen ^b   Lewis, Richard A ^a   Wong, Lee Jun C ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

Author keywords

Massively parallel sequencing; Next generation sequencing; Retinitis pigmentosa; Target gene enrichment

Indexed keywords

ADOLESCENT; ADULT; AGED; ALLELE; ARTICLE; CHILD; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; GENE DELETION; GENE EXPRESSION; GENE INSERTION; GENE MUTATION; GENE SEQUENCE; HUMAN; INFANT; MAJOR CLINICAL STUDY; POLYMERASE CHAIN REACTION; RETINITIS PIGMENTOSA; SENSITIVITY AND SPECIFICITY; VALIDATION PROCESS; DNA SEQUENCE; EXON; FEMALE; FOLLOW UP; GENETICS; HIGH THROUGHPUT SEQUENCING; INTRON; MALE; MIDDLE AGED; MOLECULAR DIAGNOSIS; MUTATION; NEWBORN; PEDIGREE; PRESCHOOL CHILD; PROCEDURES; REPRODUCIBILITY; UTILIZATION; YOUNG ADULT;

DNA;

ADOLESCENT; ADULT; AGED; CHILD; CHILD, PRESCHOOL; DNA; EXONS; FEMALE; FOLLOW-UP STUDIES; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INFANT; INFANT, NEWBORN; INTRONS; MALE; MIDDLE AGED; MOLECULAR DIAGNOSTIC TECHNIQUES; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; REPRODUCIBILITY OF RESULTS; RETINITIS PIGMENTOSA; SEQUENCE ANALYSIS, DNA; YOUNG ADULT;

EID: 84908110250     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.14-14936     Document Type: Article

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