Article
Proband-only medical exome sequencing as a cost-effective first-tier genetic diagnostic test for patients without prior molecular tests and clinical diagnosis in a developing country: the China experience.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Sept 2018
Hu Xuyun, Li Niu, Xu Yufei, Li Guoqiang, Yu Tingting, Yao Ru-En, Fu Lijun, Wang Jiwen, Yin Lei, Yin Yong, Wang Ying, Jin Xingming, Wang Xiumin, Wang Jian, Shen Yiping
Abstract excerpt
PURPOSE: To evaluate the performance of proband-only medical exome sequencing (POMES) as a cost-effective first-tier diagnostic test for pediatric patients with unselected conditions. METHODS: A total of 1,323 patients were tested by POMES, which targeted 2,742 known disease-causing genes. Clinical relevant variants were Sanger-confirmed in probands and parents. We assessed the diagnostic validity and clinical...
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