|
|||||
|
|
Clinical application of prospective whole-exome sequencing in the diagnosis of genetic disease: Experience of a regional disease center in South Korea |
|
| Authors: | Ja Young Lee Seung-Hwan Oh Changwon Keum Bo Lyun Lee Woo Yeong Chung |
| Affiliation: | 1. Department of Laboratory Medicine, Inje University College of Medicine, Busan, South Korea;2. Department of Laboratory Medicine, Pusan National University School of Medicine, Yangsan, South Korea;3. 3billion Inc., Seoul, South Korea;4. Department of Pediatrics, Inje University College of Medicine, Busan, South Korea |
| Abstract: | |
| Keywords: | diagnosis rare genetic disease undiagnosed Mendelian disorders whole-exome sequencing |