RT Journal
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
JF Genome Research 
JO Genome Research 
YR 2003 
FD October 01 
VO 13 
IS 10 
SP 2291 
OP 2305 
DO 10.1101/gr.1349003 
UL http://genome.cshlp.org/content/13/10/2291.abstract 
AB 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.