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Structural variations common in human genome

At least 12 percent of the genome is made of regions that vary in number across individuals, according to four new papers

Charles Q. Choi
Regions where large segments of DNA are gained or lost cover at least 12 percent of the human genome, far more than previously thought, an international consortium of scientists report in four papers in three journals this week. The findings could help scientists identify new traits with medical or other phenotypic relevance and understand human evolution, Wan Lam at the British Columbia Cancer Research Center in Vancouver, who did not participate in the studies, told The Scientist. "The work is beautiful," added Evan Eichler at the University of Washington in Seattle, who was not a coauthor. The consortium focused on copy number variable regions (CNVRs), which are DNA segments 500 base pairs or larger found in varying numbers in different people. In their Nature paper, coauthor Matthew Hurles at the Wellcome Trust Sanger Institute in Cambridge, England, and his colleagues report the first comprehensive map of CNVRs. The...

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