High positive predictive value of CNVs detected by clinical exome sequencing in suspected genetic diseases
临床外显子组测序检测到的拷贝数变异在疑似遗传疾病中具有较高的阳性预测值
期刊:Journal of Translational Medicine
影响因子:7.5
doi:10.1186/s12967-024-05468-1
Zeng, Yimo; Ding, Hongke; Wang, Xingwang; Huang, Yanlin; Liu, Ling; Du, Li; Lu, Jian; Wu, Jing; Zeng, Yukun; Mai, Mingqin; Zhu, Juan; Yu, Lihua; He, Wei; Guo, Fangfang; Peng, Haishan; Yao, Cuize; Qi, Yiming; Liu, Yuan; Li, Fake; Yang, Jiexia; Hu, Rong; Liang, Jie; Wang, Jicheng; Wang, Wei; Zhang, Yan; Yin, Aihua