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New Map of Genomic Variation Will Enable Disease Research
Date:7/15/2009

sent normal variation."

The investigators analyzed DNA from blood samples taken from 2,026 subjects. The subjects were healthy children and their parents, all of them drawn from primary care and well-child clinics in the Children's Hospital health care network. Of the samples, 65 percent were from Caucasians and 34 percent from African Americans. The number of subjects makes this CNV collection among the largest reported to date, and because all the samples were collected and analyzed under the same protocols, using the same technology, and at one institution, the results have a uniformity that increases their value as benchmarks.

The CNV map has a higher resolution than most previous efforts, say the authors, with over 50,000 CNVs catalogued throughout the genome. Three-quarters of these were "non-unique," occurring in multiple unrelated individuals. A majority (51.5 percent) of these non-unique CNVs were newly discovered. On average the healthy subjects in the study have approximately 27 CNVs each.

The researchers have posted the full CNV database on the Hospital's website, where it is freely available in searchable form to gene researchers worldwide. The web browser also enables researchers to compare specific CNVs to those collected in public data repositories from other institutions.

"This resource will be very important in enabling rapid and accurate diagnoses of rare diseases resulting from CNVs," said lead author Tamim H. Shaikh, Ph.D., a molecular geneticist at Children's Hospital. Often puzzling to physicians, such genetic diseases may be individually rare, but collectively occur at frequencies that are comparable to the incidence of well-known disorders such as Down syndrome. "In order to pinpoint the one CNV that is the cause of a disease, it is critical to quickly eliminate those that are part of the spectrum of normal variation that exists in the human genome. That's
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SOURCE The Children's Hospital of Philadelphia
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