Article
Clinical exome sequencing in neurogenetic and neuropsychiatric disorders.
Annals of the New York Academy of Sciences - 1 Feb 2016
Fogel Brent L, Lee Hane, Strom Samuel P, Deignan Joshua L, Nelson Stanley F
Abstract excerpt
Exome sequencing has recently been elevated to the standard of care for genetic diagnostic testing, particularly for genetically diverse and clinically heterogeneous disorders. This review provides a clinically oriented discussion of the next-generation sequencing technology that makes exome sequencing possible and how such technology is applied to the diagnosis of Mendelian disease, including clinically...
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