Unraveling missing variants through target capture-based long-read sequencing in autosomal recessive disorders.
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| Title: | Unraveling missing variants through target capture-based long-read sequencing in autosomal recessive disorders. |
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| Authors: | Lee JS; Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea., Ryu KS; Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea., Lee H; Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea., Lim H; Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea., Youn S; Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea., Lim H; Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea., Chae SW; Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea., Sung H; Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea., Cho SI; Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea., Kim Y; Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea., Jang JW; Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea., Lee H; Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea., Lee JS; Department of Pediatrics, Seoul National University Hospital Child Cancer and Rare Disease Administration, Seoul National University Children's Hospital, Seoul, Republic of Korea., Ko JM; Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Republic of Korea., Chae JH; Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Republic of Korea.; Department of Genomic Medicine, Rare Disease Center, Seoul National University Children's Hospital and Seoul National University College of Medicine, Seoul, Republic of Korea., Seong MW; Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea. mwseong@snu.ac.kr. |
| Source: | European journal of human genetics : EJHG [Eur J Hum Genet] 2026 Jul 20. Date of Electronic Publication: 2026 Jul 20. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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