Deletions Go Translational

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Evan Eichler took his genomic hotspots to patient populations. The result: translational research that could have implications in the clinic.  Evan Eichler, long known for his exploration of evolutionary hotspots in the human genome, recently was senior author on a Nature Genetics paper that goes beyond basic research and into the clinical realm. He and his team scanned hundreds of patients and found a microdeletion event that corresponded with a previously uncharacterized syndrome involving mental retardation, seizures, and slight physical abnormalities.

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