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Researchers uncover surprising degree of large-scale variation in the human genome

nd susceptibility to health problems such as neurological disease, cancer, and obesity is an intriguing possibility. The study revealed considerable structural variation in the human genome, most of which was not previously apparent by other methods of genomic analysis.

Previous studies by others using different methods had identified only a handful of such large-scale copy number polymorphisms in human DNA. The increased CNP detection frequency in the new study stems from the greater resolving power of the ROMA technology (which currently employs one probe every 35 kb) relative to other methods. Moreover, several features of ROMA result in a signal-to-background ratio superior to that which can be obtained by hybridization of total genomic DNA to an array of BACs. Further refinements of ROMA, which promise to reveal more information about large-scale polymorphisms in the human genome, are underway.


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Contact: Peter Sherwood
sherwood@cshl.edu
516-367-6947
Cold Spring Harbor Laboratory
22-Jul-2004


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