Standardization and diversification of copy number microarray testing for clinical diagnostics - Implications of the cross-platform/algorithm study on clinical diagnostic chromosomal microarray analysis

Clinical Chemistry

Volumn 57, Issue 10, 2011, Pages 1354-1356

  Shen, Yiping ^a,b,c   An, Yu ^c,d   Wu, Bai Lin ^c,d  

^a SHANGHAI CHILDREN S MEDICAL CENTER   (China)

^b SHANGHAI JIAO TONG UNIVERSITY SCHOOL OF MEDICINE   (China)

^c BOSTON CHILDREN S HOSPITAL   (United States)

^d FUDAN UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

OLIGONUCLEOTIDE;

ALGORITHM; BACTERIAL ARTIFICIAL CHROMOSOME; CHROMOSOMAL MICROARRAY ANALYSIS; CHROMOSOME ANALYSIS; COMPARATIVE GENOMIC HYBRIDIZATION; COPY NUMBER VARIATION; DIAGNOSTIC PROCEDURE; FLUORESCENCE ANALYSIS; GENE DUPLICATION; GENE EXPRESSION; GENETIC ASSOCIATION; GENOTYPE; HETEROZYGOSITY LOSS; HUMAN; MICROARRAY ANALYSIS; OLIGONUCLEOTIDE PROBE; SHORT SURVEY; SINGLE NUCLEOTIDE POLYMORPHISM; STANDARDIZATION;

ALGORITHMS; COMPARATIVE GENOMIC HYBRIDIZATION; DNA COPY NUMBER VARIATIONS; HUMANS; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; POLYMORPHISM, SINGLE NUCLEOTIDE; SENSITIVITY AND SPECIFICITY;

EID: 80053406608     PISSN: 00099147     EISSN: 15308561     Source Type: Journal    
DOI: 10.1373/clinchem.2011.171769     Document Type: Short Survey

References (4)

1. Shaffer LG, Beaudet AL, Brothman AR, Hirsch B, Levy B, Martin CL, et al. Microarray analysis for constitutional cytogenetic abnormalities. Genet Med 2007;9:654-62. (Pubitemid 47415276)
2. Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, et al. Consensus statement: Chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet 2010;86:749-64.
3. Pinto D, Darvishi K, Shi X, Rajan D, Rigler D, Fitzgerald T, et al. Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants. Nat Biotechnol 2011;29:512-20.
4. Kearney HM, South ST, Wolff DJ, Lamb A, Hamosh A, Rao KW. American College of Medical Genetics recommendations for the design and performance expectations for clinical genomic copy number microarrays intended for use in the postnatal setting for detection of constitutional abnormalities. Genet Med 2011;13:676-9.