Exome sequencing of 18,994 ethnically diverse patients with suspected rare Mendelian disorders
对 18,994 名疑似患有罕见孟德尔遗传病的、来自不同种族的患者进行了外显子组测序。
期刊:npj Genomic Medicine
影响因子:4.8
doi:10.1038/s41525-024-00455-3
Han, Heonjong; Seo, Go Hun; Hyun, Seong-In; Kwon, Kisang; Ryu, Seung Woo; Khang, Rin; Lee, Eugene; Kim, JiHye; Song, Yongjun; Jeong, Won Chan; Han, Joohyun; Kim, Dong-Wook; Yang, Soyeon; Lee, Sohyun; Jang, Sohyun; Lee, Jungsul; Lee, Hane