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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.
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
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  Data: Unraveling missing variants through target capture-based long-read sequencing in autosomal recessive disorders.
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  Data: <searchLink fieldCode="AU" term="%22Lee+JS%22">Lee JS</searchLink>; Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Ryu+KS%22">Ryu KS</searchLink>; Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Lee+H%22">Lee H</searchLink>; Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Lim+H%22">Lim H</searchLink>; Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Youn+S%22">Youn S</searchLink>; Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Lim+H%22">Lim H</searchLink>; Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Chae+SW%22">Chae SW</searchLink>; Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Sung+H%22">Sung H</searchLink>; Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Cho+SI%22">Cho SI</searchLink>; Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Kim+Y%22">Kim Y</searchLink>; Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Jang+JW%22">Jang JW</searchLink>; Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Lee+H%22">Lee H</searchLink>; Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Lee+JS%22">Lee JS</searchLink>; Department of Pediatrics, Seoul National University Hospital Child Cancer and Rare Disease Administration, Seoul National University Children's Hospital, Seoul, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Ko+JM%22">Ko JM</searchLink>; Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Chae+JH%22">Chae JH</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Seong+MW%22">Seong MW</searchLink>; Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea. mwseong@snu.ac.kr.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Nature+Publishing+Group%22">Nature Publishing Group </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>9302235 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1476-5438 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210184813%22">10184813 </searchLink><i>NLM ISO Abbreviation: </i>Eur J Hum Genet <i>Subsets: </i>MEDLINE
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