Targeted next-generation sequencing identification of mutations in patients with disorders of sex development

@article{Dong2016TargetedNS,
  title={Targeted next-generation sequencing identification of mutations in patients with disorders of sex development},
  author={Yanling Dong and Yuting Yi and Hong J Yao and Ziying Yang and Huamei Hu and Jiucheng Liu and Changxin Gao and Ming Zhang and Liying Zhou and Asan and Xin Yi and Zhiqing Liang},
  journal={BMC Medical Genetics},
  year={2016},
  volume={17},
  pages={1-9}
}
The identification of causative mutations is important for treatment decisions and genetic counseling of patients with disorders of sex development (DSD). Here, we designed a new assay based on targeted next-generation sequencing (NGS) to diagnose these genetically heterogeneous disorders. All coding regions and flanking sequences of 219 genes implicated in DSD were designed to be included on a panel. A total of 45 samples were used for sex chromosome dosage validation by targeted sequencing… CONTINUE READING