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Exome sequencing of 18,994 ethnically diverse patients with suspected rare Mendelian disorders.

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Title: Exome sequencing of 18,994 ethnically diverse patients with suspected rare Mendelian disorders.
Authors: Han H; 3billion, Inc., Seoul, South Korea., Seo GH; 3billion, Inc., Seoul, South Korea. ghseo@3billion.io., Hyun SI; 3billion, Inc., Seoul, South Korea.; Center for RNA Research, Institute for Basic Science, Seoul, South Korea., Kwon K; 3billion, Inc., Seoul, South Korea., Ryu SW; 3billion, Inc., Seoul, South Korea., Khang R; 3billion, Inc., Seoul, South Korea., Lee E; 3billion, Inc., Seoul, South Korea., Kim J; 3billion, Inc., Seoul, South Korea., Song Y; 3billion, Inc., Seoul, South Korea., Jeong WC; 3billion, Inc., Seoul, South Korea.; AI Research Center, Seegene Medical Foundation, Seoul, South Korea., Han J; 3billion, Inc., Seoul, South Korea., Kim DW; 3billion, Inc., Seoul, South Korea.; Graduate School of Science and Technology Policy, Korea Advanced Institute of Science and Technology, Daejeon, South Korea., Yang S; 3billion, Inc., Seoul, South Korea., Lee S; 3billion, Inc., Seoul, South Korea., Jang S; 3billion, Inc., Seoul, South Korea.; Genolution, Seoul, South Korea., Lee J; 3billion, Inc., Seoul, South Korea., Lee H; 3billion, Inc., Seoul, South Korea. hlee@3billion.io.
Source: NPJ genomic medicine [NPJ Genom Med] 2025 Jan 22; Vol. 10 (1), pp. 6. Date of Electronic Publication: 2025 Jan 22.
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: Exome sequencing of 18,994 ethnically diverse patients with suspected rare Mendelian disorders.
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  Data: <searchLink fieldCode="AU" term="%22Han+H%22">Han H</searchLink>; 3billion, Inc., Seoul, South Korea.<br /><searchLink fieldCode="AU" term="%22Seo+GH%22">Seo GH</searchLink>; 3billion, Inc., Seoul, South Korea. ghseo@3billion.io.<br /><searchLink fieldCode="AU" term="%22Hyun+SI%22">Hyun SI</searchLink>; 3billion, Inc., Seoul, South Korea.; Center for RNA Research, Institute for Basic Science, Seoul, South Korea.<br /><searchLink fieldCode="AU" term="%22Kwon+K%22">Kwon K</searchLink>; 3billion, Inc., Seoul, South Korea.<br /><searchLink fieldCode="AU" term="%22Ryu+SW%22">Ryu SW</searchLink>; 3billion, Inc., Seoul, South Korea.<br /><searchLink fieldCode="AU" term="%22Khang+R%22">Khang R</searchLink>; 3billion, Inc., Seoul, South Korea.<br /><searchLink fieldCode="AU" term="%22Lee+E%22">Lee E</searchLink>; 3billion, Inc., Seoul, South Korea.<br /><searchLink fieldCode="AU" term="%22Kim+J%22">Kim J</searchLink>; 3billion, Inc., Seoul, South Korea.<br /><searchLink fieldCode="AU" term="%22Song+Y%22">Song Y</searchLink>; 3billion, Inc., Seoul, South Korea.<br /><searchLink fieldCode="AU" term="%22Jeong+WC%22">Jeong WC</searchLink>; 3billion, Inc., Seoul, South Korea.; AI Research Center, Seegene Medical Foundation, Seoul, South Korea.<br /><searchLink fieldCode="AU" term="%22Han+J%22">Han J</searchLink>; 3billion, Inc., Seoul, South Korea.<br /><searchLink fieldCode="AU" term="%22Kim+DW%22">Kim DW</searchLink>; 3billion, Inc., Seoul, South Korea.; Graduate School of Science and Technology Policy, Korea Advanced Institute of Science and Technology, Daejeon, South Korea.<br /><searchLink fieldCode="AU" term="%22Yang+S%22">Yang S</searchLink>; 3billion, Inc., Seoul, South Korea.<br /><searchLink fieldCode="AU" term="%22Lee+S%22">Lee S</searchLink>; 3billion, Inc., Seoul, South Korea.<br /><searchLink fieldCode="AU" term="%22Jang+S%22">Jang S</searchLink>; 3billion, Inc., Seoul, South Korea.; Genolution, Seoul, South Korea.<br /><searchLink fieldCode="AU" term="%22Lee+J%22">Lee J</searchLink>; 3billion, Inc., Seoul, South Korea.<br /><searchLink fieldCode="AU" term="%22Lee+H%22">Lee H</searchLink>; 3billion, Inc., Seoul, South Korea. hlee@3billion.io.
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  Data: <searchLink fieldCode="JN" term="%22101685193%22">NPJ genomic medicine</searchLink> [NPJ Genom Med] 2025 Jan 22; Vol. 10 (1), pp. 6. <i>Date of Electronic Publication: </i>2025 Jan 22.
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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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