Copy number variation sequencing for comprehensive diagnosis of chromosome disease syndromes

Journal of Molecular Diagnostics

Volumn 16, Issue 5, 2014, Pages 519-526

  Liang, Desheng ^a   Peng, Ying ^a   Lv, Weigang ^a   Deng, Linbei ^a   Zhang, Yanghui ^a   Li, Haoxian ^a   Yang, Pu ^a   Zhang, Jianguang ^b   Song, Zhuo ^b   Xu, Genming ^b   Cram, David S ^b   Wu, Lingqian ^a  

^a CENTRAL SOUTH UNIVERSITY   (China)

^b Berry Genomics   (China)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA;

ARTICLE; CHROMOSOME ABERRATION; CHROMOSOME DISORDER; CHROMOSOME PAIRING; CLINICAL PRACTICE; COPY NUMBER VARIATION; DNA TEMPLATE; GENE DELETION; GENE SEQUENCE; GENETIC ASSOCIATION; GENOME ANALYSIS; GOLD STANDARD; HUMAN; KARYOTYPING; MAJOR CLINICAL STUDY; MOLECULAR DIAGNOSIS; SENSITIVITY AND SPECIFICITY; SEX CHROMOSOME; SINGLE NUCLEOTIDE POLYMORPHISM; VALIDATION STUDY; X CHROMOSOME; CHROMOSOME DISORDERS; DNA MICROARRAY; GENETICS; HIGH THROUGHPUT SEQUENCING; PROCEDURES; REPRODUCIBILITY; RING CHROMOSOME; SYNDROME;

CHROMOSOME DISORDERS; DNA COPY NUMBER VARIATIONS; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; KARYOTYPING; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; POLYMORPHISM, SINGLE NUCLEOTIDE; REPRODUCIBILITY OF RESULTS; RING CHROMOSOMES; SENSITIVITY AND SPECIFICITY; SEQUENCE DELETION; SYNDROME;

EID: 84906281405     PISSN: 15251578     EISSN: 19437811     Source Type: Journal    
DOI: 10.1016/j.jmoldx.2014.05.002     Document Type: Article

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