P235: Exploring precision medicine through genome sequencing for patients suspected of rare genetic disorders
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.
Authors
- Jung Hye Byeon (ORCID: https://orcid.org/0000-0001-5479-2451)
- Rin Khang (ORCID: https://orcid.org/0000-0002-8517-133X)
- Soojin Hwang (ORCID: https://orcid.org/0000-0002-1779-237X)
- Gu-Hwan Kim (ORCID: https://orcid.org/0000-0002-7056-7446)
- In Hee Choi (ORCID: https://orcid.org/0000-0001-5740-6368)
- Yoo‐Mi Kim (ORCID: https://orcid.org/0000-0002-8440-5069)
- Beom Hee Lee (ORCID: https://orcid.org/0000-0001-9709-2631)
- Myungshin Kim (ORCID: https://orcid.org/0000-0001-8632-0168)
- Eungu Kang (ORCID: https://orcid.org/0000-0001-6544-3599)
- Go Hun Seo (ORCID: https://orcid.org/0000-0003-1518-1791)
- Hyun‐Young Park (ORCID: https://orcid.org/0000-0002-6698-7368)
- Jiyoung Oh (ORCID: https://orcid.org/0000-0003-3552-8465)
- Baik‐Lin Eun (ORCID: https://orcid.org/0000-0001-8735-292X)
- Kyoung Bo Kim (ORCID: https://orcid.org/0000-0001-6461-8852)
- Jun Hong Park (ORCID: https://orcid.org/0000-0001-8905-4125)
- Jihye Kim (ORCID: https://orcid.org/0000-0002-5719-8180)
- Mi-Hyun Park (ORCID: https://orcid.org/0000-0002-9058-1704)
- Seung‐Woo Ryue
Institutions
- Ulsan College (KR)
- Yonsei University (KR)
- Korea University (KR)
- Severance Hospital (KR)
- Asan Medical Center (KR)
- Sejong University (KR)
- University of Ulsan (KR)
- St. Mary's Hospital (US)
- Korea National Institute of Health (KR)
- Sejong General Hospital (KR)
- Jeonbuk National University Hospital (KR)
- Korea Disease Control and Prevention Agency (KR)
- The Catholic University of Korea Seoul St. Mary's Hospital (KR)
- Keimyung University (KR)
- Jeonbuk National University (KR)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.gimo.2025.102200
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00