NDLI: Representational Oligonucleotide Microarray Analysis: A High-Resolution Method to Detect Genome Copy Number Variation

Content Provider	PubMed Central
Author	Robert, Lucito Healy, John Alexander, Joan Reiner, Andrew Esposito, Diane Chi, Maoyen Rodgers, Linda Brady, Amy Jonathan, Sebat Troge, Jennifer West, Joseph A. Rostan, Seth Nguyen, Ken C. Q. Powers, Scott Ye, Kenneth Q. Adam, Olshen Venkatraman, Ennapadam Norton, Larry Wigler, Michael
Copyright Year	2003
Abstract	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.
Related Links	http://dx.doi.org/10.1101/gr.1349003
Ending Page	2305
Page Count	15
Starting Page	2291
File Format	PDF
ISSN	10889051
Journal	Genome Research
Issue Number	10
Volume Number	13
Language	English
Publisher	Cold Spring Harbor Laboratory Press
Publisher Date	2003-10-01
Access Restriction	Open
Rights Holder	Cold Spring Harbor Laboratory Press
Subject Keyword	Genetics(clinical) Genetics Research in Higher Education
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

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3	National Digital Library of India Office, Indian Institute of Technology Kharagpur	The administrative and infrastructural headquarters of the project	Dr. B. Sutradhar bsutra@ndl.gov.in
4	Project PI / Joint PI	Principal Investigator and Joint Principal Investigators of the project	Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon
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