Array comparative genomic hybridization (aCGH) is a cornerstone technology in the quest to identify DNA mutations underlying genetic disease. aCGH detects genomic aberrations not evident by traditional cytogenetic techniques, likewise cytogenetic analysis detects structural changes not apparent by aCGH. Genomic interrogation that applies aCGH, gene expression profiling, and molecular cytogenetic analyses in a parallel fashion yields a much more comprehensive genomic profile to assess the chromosomal abnormalities associated with disease.

Michael Barrett and colleagues (2008) used this integrated approach to investigate the development of chemotherapy resistance in an in vitro model of ovarian cancer. Using Agilent microarrays, the researchers analyzed copy number and gene expression concurrently. The third component of the study included advanced molecular cytogenetic analyses. The results of this multi-front approach to genomic profiling enabled the group to identify relationships between particular genomic aberrations and expressed loci, and to reveal the origin of acquired chromosomal mutations in a drug-resistant cell line.

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