Unlocking genetic disease with next-generation sequencing

Using new, whole-genome sequencing technology coupled with classic methods of genetic investigation, scientists at Duke University, along with colleagues at Johns Hopkins, have discovered two mutations in the same gene that seem to cause metachondromatosis in humans. This is a rare, heritable disease that leads to bony growths, mostly on the hands and feet. The discovery, published June 17 in the open-access journal PLoS Genetics, was accomplished by sequencing the entire genome of just one individual from a family with multiple cases of metachondromatosis, a feat that until recently would not have been possible...

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