Clinical implementation of a multidisciplinary pipeline for genome sequencing in rare diseases: A prospective, multicenter, observational cohort study

Soojin Hwang; Go Hun Seo; In Hee Choi; Seung-Woo Ryue; Ji Young Oh; Yoo-Mi Kim; Baik-Lin Eun; Jung Hye Byeon; Eugu Kang; Myungshin Kim; Hoon Seok Kim; Soyoung Lee; Han Wool Kim; Dohyung Kim; Rin Khang; Jihye Kim; Dongseok Moon; Seokhui Jang; Yongjun Song; Gu-Hwan Kim; Kyoung Bo Kim; Jun Hong Park; Seo Yeon Yang; Yoo Kyoung Choi; Su Min Ji; Oc-Hee Kim; Mi-Hyun Park; Hyun-Young Park; Beom Hee Lee

doi:10.1002/ctm2.70401

Clinical and Translational Medicine ›› 2025, Vol. 15 ›› Issue (7) : e70401 DOI: 10.1002/ctm2.70401

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Clinical implementation of a multidisciplinary pipeline for genome sequencing in rare diseases: A prospective, multicenter, observational cohort study

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¹. Department of Paediatrics, Medical Genetics Centre, Asan Medical Centre, University of Ulsan College of Medicine, Seoul, South Korea

². Medical Genetics Division, 3billion Inc., Seoul, South Korea

³. Department of Genetic Counselling, University of Ulsan College of Medicine, Seoul, South Korea

⁴. Department of Paediatrics, Severance Children's Hospital, Yonsei University College of Medicine, Seoul, South Korea

⁵. Department of Paediatrics, Chungnam National University Sejong Hospital, Sejong, South Korea

⁶. Department of Paediatrics, Korea University College of Medicine, Seoul, South Korea

⁷. Department of Laboratory Medicine, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, South Korea

⁸. Department of Paediatrics, Hallym University Sacred Heart Hospital, Anyang, South Korea

⁹. Medical Genetics Centre, Asan Medical Centre, University of Ulsan College of Medicine, Seoul, South Korea

¹⁰. Department of Laboratory Medicine, Keimyung University School of Medicine, Daegu, South Korea

¹¹. Department of Laboratory Medicine, Jeonbuk National University Medical School and Hospital, Jeonju, South Korea

¹². Department of Precision Medicine, Division of Genome Science, National Institute of Health, Cheongju, South Korea

¹³. National Institute of Health, Cheongju, South Korea

mihyun4868@korea.kr

hypark65@korea.kr

bhlee@amc.seoul.kr

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Soojin Hwang, Go Hun Seo, In Hee Choi, Seung-Woo Ryue, Ji Young Oh, Yoo-Mi Kim, Baik-Lin Eun, Jung Hye Byeon, Eugu Kang, Myungshin Kim, Hoon Seok Kim, Soyoung Lee, Han Wool Kim, Dohyung Kim, Rin Khang, Jihye Kim, Dongseok Moon, Seokhui Jang, Yongjun Song, Gu-Hwan Kim, Kyoung Bo Kim, Jun Hong Park, Seo Yeon Yang, Yoo Kyoung Choi, Su Min Ji, Oc-Hee Kim, Mi-Hyun Park, Hyun-Young Park, Beom Hee Lee. Clinical implementation of a multidisciplinary pipeline for genome sequencing in rare diseases: A prospective, multicenter, observational cohort study. Clinical and Translational Medicine, 2025, 15(7): e70401 DOI:10.1002/ctm2.70401

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2025 The Author(s). Clinical and Translational Medicine published by John Wiley & Sons Australia, Ltd on behalf of Shanghai Institute of Clinical Bioinformatics.