Comprehensive validation of array comparative genomic hybridization platforms: How much is enough?

Genetics in Medicine

Volumn 9, Issue 9, 2007, Pages 632-641

  Thorland, Erik C ^a,b   Gonzales, Patrick R ^a   Gliem, Troy J ^a   Wiktor, Anne E ^a   Ketterling, Rhett P ^a  

^a MAYO CLINIC   (United States)

^b NONE   (United States)

Author keywords

Array CGH; Array comparative genomic hybridization; Microarray validation; Subtelomeric abnormalities

Indexed keywords

ALGORITHM; ARTICLE; CHROMOSOME 20Q; CHROMOSOME 6Q; CHROMOSOME DELETION; CHROMOSOME MAP; CHROMOSOME REPLICATION; CLINICAL TRIAL; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; CYTOGENETICS; FALSE NEGATIVE RESULT; HUMAN; MAJOR CLINICAL STUDY; MEDICAL DOCUMENTATION; MICROARRAY ANALYSIS; PUBLICATION; SINGLE BLIND PROCEDURE; TELOMERE; VALIDATION STUDY;

DNA; GENE DOSAGE; GENOME, HUMAN; GENOMICS; GUIDELINES; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; NUCLEIC ACID HYBRIDIZATION; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; REPRODUCIBILITY OF RESULTS; SENSITIVITY AND SPECIFICITY; VARIATION (GENETICS);

EID: 34548661037     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/GIM.0b013e31814629fc     Document Type: Article

References (16)

1. Shaffer LG, Bejjani BA. Medical applications of array CGH and the transformation of clinical cytogenetics. Cytogenet Genome Res 2006;115:303-309.
2. Veltman JA, De Vries BB. Diagnostic genome profiling: unbiased whole genome or targeted analysis? J Mol Diagn 2006;8:534-537.
3. Ravnan JB, Tepperberg JH, Papenhausen P, Lamb AN, et al. Subtelomere FISH analysis of 11688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities. J Med Genet 2006;43: 478-489.
4. Knight SJ, Lese CM, Precht KS, Kuc J, et al. An optimized set of human telomere clones for studying telomere integrity and architecture. Am J Hum Genet 2000;67: 320-332.
5. Bejjani BA, Saleki R, Ballif BC, Rorem EA, et al. Use of targeted array-based CGH for the clinical diagnosis of chromosomal imbalance: is less more? Am J Med Genet Part A 2005;134:259-267.
6. Wong A, Lese Martin C, Heretis K, Ruffalo T, et al. Detection and calibration of microdeletions and microduplications by array-based comparative genomic hybridization and its applicability to clinical genetic testing. Genet Med 2005;7:264-271.
7. Veltman JA, Schoenmakers EF, Eussen BH, Janssen I, et al. High-throughput analysis of subtelomeric chromosome rearrangements by use of array-based comparative genomic hybridization. Am J Hum Genet 2002;70:1269-1276.
8. Shaw-Smith C, Redon R, Rickman L, Rio M, et al. Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features. J Med Genet 2004;41:241-248.
9. Karolchik D, Baertsch R, Diekhans M, Furey TS, et al. The UCSC Genome Browser Database. Nucleic Acids Res 2003;31:51-54.
10. Feuk L, Carson AR, Scherer SW. Structural variation in the human genome. Nat Rev Gene 2006;7:85-97.
11. Bejjani BA, Shaffer LG. Application of array-based comparative genomic hybridization to clinical diagnostics. J Mol Diagn 2006;8:528-533.
12. Sebat J, Lakshmi B, Troge J, Alexander J, et al. Large-scale copy number polymorphism in the human genome. Science 2004;305:525-528.
13. Sharp AJ, Locke DP, McGrath SD, Cheng Z, et al. Segmental duplications and copy-number variation in the human genome. Am J Hum Genet 2005;77:78-88.
14. Redon R, Ishikawa S, Fitch KR, Feuk L, et al. Global variation in copy number in the human genome. Nature 2006;444:444-454.
15. Ballif BC, Kashork CD, Shaffer LG. The promise and pitfalls of telomere region-specific probes. Am J Hum Genet 2000;67:1356-1359.
16. Eash D, Waggoner D, Chung J, Stevenson D, et al. Calibration of 6q subtelomere deletions to define genotype/phenotype correlations. Clin Genet 2005;67:396-403.