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Integrative analysis of in silico predictions and clinical evidence to delineate the capability of HiFi long-read sequencing in paralogous genes.

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Title: Integrative analysis of in silico predictions and clinical evidence to delineate the capability of HiFi long-read sequencing in paralogous genes.
Authors: Kim SK; Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea.; Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul, Republic of Korea., Jang J; 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., Sung H; 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., Yim 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., Lee JS; Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea. leciel85@snu.ac.kr., Seong MW; Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea. mwseong@snu.ac.kr.; Seoul National University Cancer Research Institute, Seoul, Republic of Korea. mwseong@snu.ac.kr.
Source: NPJ genomic medicine [NPJ Genom Med] 2026 Mar 03; Vol. 11 (1). Date of Electronic Publication: 2026 Mar 03.
Publication Type: Journal Article
Journal Info: Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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  Data: <searchLink fieldCode="AU" term="%22Kim+SK%22">Kim SK</searchLink>; Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea.; Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Jang+J%22">Jang J</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="%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="%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="%22Yim+H%22">Yim 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="%22Lee+JS%22">Lee JS</searchLink>; Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea. leciel85@snu.ac.kr.<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.; Seoul National University Cancer Research Institute, Seoul, Republic of Korea. mwseong@snu.ac.kr.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Springer+Nature+in+partnership+with+the+Center+of+Excellence+in+Genomic+Medicine+Research+at+King+Abdulaziz+University%22">Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101685193 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>2056-7944 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2220567944%22">20567944 </searchLink><i>NLM ISO Abbreviation: </i>NPJ Genom Med <i>Subsets: </i>PubMed not MEDLINE
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              Text: 2026 Mar 03
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