변정혜 교수 연구실
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인용수 0
·2025
P235: Exploring precision medicine through genome sequencing for patients suspected of rare genetic disorders
Soojin Hwang, Go Hun Seo, In Hee Choi, Seung‐Woo Ryue, Jiyoung Oh, Yoo‐Mi Kim, Baik‐Lin Eun, Jung Hye Byeon, Eungu Kang, Myungshin Kim, Gu-Hwan Kim, Rin Khang, Jihye Kim, Kyoung Bo Kim, Jun Hong Park, Mi-Hyun Park, Beom Hee Lee, Hyun‐Young Park
Genetics in Medicine Open
초록
Genome sequencing (GS) has brought diagnosis closer to patients with rare genetic diseases. However, there are still obstacles in the clinical process. This study explores the performance of precision medicine in 901 individuals from 387 families with rare genetic diseases, through precise molecular diagnoses with GS and comprehensive genetic counseling and appropriate management.
키워드
Precision medicineDNA sequencingComputational biologyMedicineBiologyGeneticsGene