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Cataloging the structural variations in human genetics

Published in AIDS Weekly, May 21st, 2007

A major new effort to uncover the medium- and large-scale genetic differences between humans may soon reveal DNA sequences that contribute to a wide range of diseases, according to a paper by Howard Hughes Medical Institute investigator Evan Eichler and 17 colleagues published in Nature. The undertaking will help researchers identify structural variations in DNA sequences, which Eichler says amount to as much as five to ten percent of the human genome.

Past studies of human genetic differences usually have focused on the individual "letters” or bases of a DNA sequence. But the genetic differences between humans amount to more than simple spelling errors. "Structural...

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