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 - Tập 20 - Trang 1045-1053 - 2018
Xuyun Hu1,2, Niu Li1, Yufei Xu1, Guoqiang Li1, Tingting Yu1, Ru-en Yao1, Lijun Fu3, Jiwen Wang4, Lei Yin5, Yong Yin6, Ying Wang7, Xingming Jin8, Xiumin Wang9, Jian Wang1, Yiping Shen1,2,10
1Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children’s Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China;
2Genetic and Metabolic Central Laboratory, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China;
3Department of Cardiology, Shanghai Children’s Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China
4Department of Neurology, Shanghai Children’s Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China;
5Department of Nephrology and Rheumatology, Shanghai Children’s Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China;
6Department of Respiration, Shanghai Children’s Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China;
7Department of Internal Medicine, Shanghai Children’s Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China;
8Department of Child Healthcare, Shanghai Children’s Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China;
9Department of Endocrinology and Metabolism, Shanghai Children’s Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China
10Division of Genetics and Genomics, Boston Children’s Hospital, Boston, Massachusetts, USA.

Tài liệu tham khảo

Lee Yang Yang Retterer Farwell Stark Vissers Nguyen Monroe Stark Richards Hu X. All 512 pathogenic or likely pathogenic variants detected in 410 patients. https://figshare.com/articles/All_512_pathogenic_or_likely_pathogenic_variants_detected_in_410_patients/5334034. 22 August 2017. Chen Boycott Saudi Mendeliome Group