Article: Yale's scan of Turkish infant's genome yields a surprise diagnosis.

In a dramatic illustration of the power of emerging genetic technologies, Yale University researchers have reported making a clinical diagnosis for the first time using comprehensive DNA sequencing of all the protein-coding genes in the genome. The information changed the course of treatment of a baby boy suffering from symptoms of dehydration thousands of miles away in Turkey.

The new approach to DNA sequencing used by Yale researchers and described online Oct. 19 in the Proceedings of the National Academy of Sciences is called whole exome sequencing because it selectively analyzes the 1 percent of the genome that contains genes that code for proteins. This ...

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