TY - JOUR A1 - Lucito, Robert A1 - Healy, John A1 - Alexander, Joan A1 - Reiner, Andrew A1 - Esposito, Diane A1 - Chi, Maoyen A1 - Rodgers, Linda A1 - Brady, Amy A1 - Sebat, Jonathan A1 - Troge, Jennifer A1 - West, Joseph A. A1 - Rostan, Seth A1 - Nguyen, Ken C.Q. A1 - Powers, Scott A1 - Ye, Kenneth Q. A1 - Olshen, Adam A1 - Venkatraman, Ennapadam A1 - Norton, Larry A1 - Wigler, Michael T1 - Representational Oligonucleotide Microarray Analysis: A High-Resolution Method to Detect Genome Copy Number Variation Y1 - 2003/10/01 JF - Genome Research JO - Genome Research SP - 2291 EP - 2305 DO - 10.1101/gr.1349003 VL - 13 IS - 10 UR - http://genome.cshlp.org/content/13/10/2291.abstract N2 - We have developed a methodology we call ROMA (representational oligonucleotide microarray analysis), for the detection of the genomic aberrations in cancer and normal humans. By arraying oligonucleotide probes designed from the human genome sequence, and hybridizing with “representations” from cancer and normal cells, we detect regions of the genome with altered “copy number.” We achieve an average resolution of 30 kb throughout the genome, and resolutions as high as a probe every 15 kb are practical. We illustrate the characteristics of probes on the array and accuracy of measurements obtained using ROMA. Using this methodology, we identify variation between cancer and normal genomes, as well as between normal human genomes. In cancer genomes, we readily detect amplifications and large and small homozygous and hemizygous deletions. Between normal human genomes, we frequently detect large (100 kb to 1 Mb) deletions or duplications. Many of these changes encompass known genes. ROMA will assist in the discovery of genes and markers important in cancer, and the discovery of loci that may be important in inherited predispositions to disease. ER -