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Counting duplicated genome segments now possible
Date:8/30/2009

y eventually make it feasible to detect the full-spectrum of genomic variation among many individuals, including patients suffering from diseases of genetic origin. Next-generation technology and computational methods promise low cost, rapid sequencing of different individuals and may lead to a fuller understanding of the patterns and significance of human genetic variation."

The analytical method they devised is already being tapped for the 1000 Genome Project, an international effort to catalog and compare the genomes of hundreds of people from around the world.

Alkan, Kidd, and their colleagues noted that copy number variants, including variable duplications of entire genes, are recognized as making substantial contributions to human diversity.

The ability to accurately and systematically determine the absolute copy number for any genomic segment is a notable step, the researchers added, toward a true and complete picture of individual genomes and how the genome shapes a person's characteristics.

"The next challenge," they wrote, "will be defining variation in the sequence content and the structural organization of these dynamic and important regions of the human genome."


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Contact: Leila Gray
leilag@u.washington.edu
206-685-0381
University of Washington
Source:Eurekalert

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