1 National Infrastructures for Translational Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China; Rare Disease Center, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China.
2 BGI Genomics, Shenzhen 518083, China.
3 State Key Laboratory of Complex, Severe, and Rare Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China; Rare Disease Center, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China.
4 National Infrastructures for Translational Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China.
5 BGI, Shenzhen 518083, China.
6 China Rare Disease Alliance, Beijing 100730, China.
7 National Infrastructures for Translational Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China; Rare Disease Center, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China. Electronic address: guodan@pumch.cn.
9 National Infrastructures for Translational Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China; State Key Laboratory of Complex, Severe, and Rare Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China; Rare Disease Center, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China. Electronic address: shuyangzhang103@nrdrs.org.