Application of next generation sequencing in the screening of monogenic diseases in China, 2021: a consensus among Chinese newborn screening experts

Tong, Fan; Wang, Jian; Xiao, Rui; Wu, Bing-Bing; Zou, Chao-Chun; Wu, Ding-Wen; Wang, Hua; Zou, Hui; Han, Lian-Shu; Yang, Lin; Zou, Lin; Hei, Ming-Yan; Yang, Ru-Lai; Yuan, Tian-Ming; Wen, Wei; Huang, Xin-Wen; Gu, Xue-Fan; Yang, Yan-Ling; Huang, Yong-Lan; Zhang, Yong-Jun; Yu, Yong-Guo; Xu, Zheng-Feng; Zhou, Wen-Hao^*; Zhao, Zheng-Yan^*

Science Citation Index Expanded

复旦大学; 北京大学; 南方医科大学; 上海交通大学; 浙江大学

摘要

关键词

MEDICAL GENETICS AMERICAN-COLLEGE RECOMMENDATION DISCOVERY STANDARDS VARIANTS GENOMICS