Whole genome sequencing enables new genetic diagnosis for inherited retinal diseases by identifying pathogenic variants
全基因组测序通过识别致病变异,为遗传性视网膜疾病的基因诊断提供了新的方法。
期刊:npj Genomic Medicine
影响因子:4.8
doi:10.1038/s41525-024-00391-2
Liu, Xubing; Hu, Fangyuan; Zhang, Daowei; Li, Zhe; He, Jianquan; Zhang, Shenghai; Wang, Zhenguo; Zhao, Yingke; Wu, Jiawen; Liu, Chen; Li, Chenchen; Li, Xin; Wu, Jihong