Diagnosis of copy number variation by Illumina next generation sequencing is comparable in performance to oligonucleotide array comparative genomic hybridisation

Genomics

Volumn 102, Issue 3, 2013, Pages 174-181

  Hayes, J L ^a   Tzika, A ^a   Thygesen, H ^a   Berri, S ^b   Wood, H M ^b   Hewitt, S ^a   Pendlebury, M ^a   Coates, A ^a   Willoughby, L ^a   Watson, C M ^b   Rabbitts, P ^b   Roberts, P ^a   Taylor, G R ^b  

^a ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^b UNIVERSITY OF LEEDS   (United Kingdom)

Author keywords

CNV; Copy number; Illumina; Next generation sequencing

Indexed keywords

CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; COPY NUMBER VARIATION; DIAGNOSTIC TEST ACCURACY STUDY; DNA DETERMINATION; FLUORESCENCE IN SITU HYBRIDIZATION; GENE TECHNOLOGY; GENETIC PROCEDURES; GENETIC SCREENING; HUMAN; INTERMETHOD COMPARISON; MICROARRAY ANALYSIS; NEXT GENERATION SEQUENCING; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; REVIEW; RUBINSTEIN SYNDROME; SENSITIVITY AND SPECIFICITY; SEQUENCE ANALYSIS;

CNV; COPY NUMBER; COPY NUMBER VARIATION; E-M; EXPECTATION-MAXIMIZATION; FISH; FLUORESCENT IN SITU HYBRIDISATION; GAII X; ILLUMINA; ILLUMINA GENOME ANALYZER IIX; MLPA; MULTIPLEX LIGATION-DEPENDENT PROBE AMPLIFICATION; NEXT GENERATION SEQUENCING; NGS; OMIM; ONLINE MENDELIAN INHERITANCE IN MAN; Q-PCR; QUANTITATIVE PCR;

ADULT; CHILD; CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; COMPARATIVE GENOMIC HYBRIDIZATION; DNA COPY NUMBER VARIATIONS; GENOME, HUMAN; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; STATISTICS AS TOPIC;

EID: 84882833974     PISSN: 08887543     EISSN: 10898646     Source Type: Journal    
DOI: 10.1016/j.ygeno.2013.04.006     Document Type: Review

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