Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE
利用自动化变异优先排序系统进行全外显子组测序的诊断率和临床应用价值,《证据》
期刊:Clinical Genetics
影响因子:2.3
doi:10.1111/cge.13848
Seo, Go Hun; Kim, Taeho; Choi, In Hee; Park, Jung-Young; Lee, Jungsul; Kim, Sehwan; Won, Dhong-Gun; Oh, Arum; Lee, Yena; Choi, Jeongmin; Lee, Hajeong; Kang, Hee Gyung; Cho, Hee Yeon; Cho, Min Hyun; Kim, Yoon Jeon; Yoon, Young Hee; Eun, Baik-Lin; Desnick, Robert J; Keum, Changwon; Lee, Beom Hee