Next generation sequencing establishes genetic link between two rare diseases

Scientists have successfully used 'next generation sequencing' to identify mutations that may cause a rare and mysterious genetic disorder. The research, published by Cell Press on July 29th in the American Journal of Human Genetics, demonstrates that sequencing an affected individual's entire 'exome'; that is, all of the genes that carry instructions for producing proteins, can reveal critical genes that when mutant, cause inherited disorders...

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