Article
Identification of a de novo DYNC1H1 mutation via WES according to published guidelines.
Scientific reports - 5 Feb 2016
Ding Dongxue, Chen Zhao, Li Kai, Long Zhe, Ye Wei, Tang Zhaoli, Xia Kun, Qiu Rong, Tang Beisha, Jiang Hong
Abstract excerpt
De novo mutations that contribute to rare Mendelian diseases, including neurological disorders, have been recently identified. Whole-exome sequencing (WES) has become a powerful tool for the identification of inherited and de novo mutations in Mendelian diseases. Two important guidelines were recently published regarding the investigation of causality of sequence variant in human disease and the interpretation of...
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