Uncovering potential causal genes for undiagnosed congenital anomalies using an in-house pipeline for trio-based whole-genome sequencing
利用自主研发的基于三联体全基因组测序的流程,揭示未确诊先天性异常的潜在致病基因
期刊:Human Genomics
影响因子:4.3
doi:10.1186/s40246-024-00709-2
Kim, Jeong-Min; Cho, Hye-Won; Shin, Dong Mun; Kim, Oc-Hee; Kim, Jihyun; Lee, Hyeji; Lee, Gang-Hee; An, Joon-Yong; Yang, Misun; Jo, Heui Seung; Jang, Ja-Hyun; Chang, Yun Sil; Park, Hyun-Young; Park, Mi-Hyun