Next generation sequencing establishes genetic link between two rare diseases
Sunday, August 1, 2010 - 01:28
in Biology & Nature
Scientists have successfully used "next generation sequencing" to identify mutations that may cause a rare and mysterious genetic disorder. The research 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.