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Uncovering potential causal genes for undiagnosed congenital anomalies using an in-house pipeline for trio-based whole-genome sequencing.

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Title: Uncovering potential causal genes for undiagnosed congenital anomalies using an in-house pipeline for trio-based whole-genome sequencing.
Authors: Kim JM; Division of Genome Science, Department of Precision Medicine, Korea National Institute of Health, Korea Disease Control and Prevention Agency, Cheongju, Chungbuk, 28159, Republic of Korea., Cho HW; Division of Genome Science, Department of Precision Medicine, Korea National Institute of Health, Korea Disease Control and Prevention Agency, Cheongju, Chungbuk, 28159, Republic of Korea., Shin DM; Division of Genome Science, Department of Precision Medicine, Korea National Institute of Health, Korea Disease Control and Prevention Agency, Cheongju, Chungbuk, 28159, Republic of Korea., Kim OH; Division of Genome Science, Department of Precision Medicine, Korea National Institute of Health, Korea Disease Control and Prevention Agency, Cheongju, Chungbuk, 28159, Republic of Korea., Kim J; Division of Genome Science, Department of Precision Medicine, Korea National Institute of Health, Korea Disease Control and Prevention Agency, Cheongju, Chungbuk, 28159, Republic of Korea., Lee H; Department of Integrated Biomedical and Life Science, Korea University, Seoul, 02841, Republic of Korea.; Transdisciplinary Major in Learning Health Systems, Department of Healthcare Sciences, Graduate School, Korea University, Seoul, 02841, Republic of Korea.; BK21FOUR R&E Center for Learning Health Systems, Korea University, Seoul, 02841, Republic of Korea., Lee GH; Department of Integrated Biomedical and Life Science, Korea University, Seoul, 02841, Republic of Korea.; Transdisciplinary Major in Learning Health Systems, Department of Healthcare Sciences, Graduate School, Korea University, Seoul, 02841, Republic of Korea.; BK21FOUR R&E Center for Learning Health Systems, Korea University, Seoul, 02841, Republic of Korea., An JY; Department of Integrated Biomedical and Life Science, Korea University, Seoul, 02841, Republic of Korea.; Transdisciplinary Major in Learning Health Systems, Department of Healthcare Sciences, Graduate School, Korea University, Seoul, 02841, Republic of Korea.; BK21FOUR R&E Center for Learning Health Systems, Korea University, Seoul, 02841, Republic of Korea.; School of Biosystem and Biomedical Science, College of Health Science, Korea University, Seoul, 02841, Republic of Korea., Yang M; Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, 06351, Republic of Korea.; Cell and Gene Therapy, Samsung Medical Center, Seoul, 06351, Republic of Korea., Jo HS; Department of Pediatrics, Kangwon National University School Hospital, Kangwon National University School of Medicine, Chuncheon, 24289, Republic of Korea., Jang JH; Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, 06351, Republic of Korea., Chang YS; Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, 06351, Republic of Korea.; Cell and Gene Therapy, Samsung Medical Center, Seoul, 06351, Republic of Korea.; Department of Health Sciences and Technology, Samsung Advanced Institute for Health Sciences and Technology, Sungkyunkwan University, Seoul, 06351, Republic of Korea., Park HY; Korea National Institute of Health, Korea Disease Control and Prevention Agency, Cheongju, 28159, Republic of Korea. hypark65@korea.kr., Park MH; Division of Genome Science, Department of Precision Medicine, Korea National Institute of Health, Korea Disease Control and Prevention Agency, Cheongju, Chungbuk, 28159, Republic of Korea. mihyun4868@korea.kr.
Source: Human genomics [Hum Genomics] 2025 Jan 06; Vol. 19 (1), pp. 1. Date of Electronic Publication: 2025 Jan 06.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101202210 Publication Model: Electronic Cited Medium: Internet ISSN: 1479-7364 (Electronic) Linking ISSN: 14739542 NLM ISO Abbreviation: Hum Genomics Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Uncovering potential causal genes for undiagnosed congenital anomalies using an in-house pipeline for trio-based whole-genome sequencing.
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  Data: <searchLink fieldCode="AU" term="%22Kim+JM%22">Kim JM</searchLink>; Division of Genome Science, Department of Precision Medicine, Korea National Institute of Health, Korea Disease Control and Prevention Agency, Cheongju, Chungbuk, 28159, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Cho+HW%22">Cho HW</searchLink>; Division of Genome Science, Department of Precision Medicine, Korea National Institute of Health, Korea Disease Control and Prevention Agency, Cheongju, Chungbuk, 28159, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Shin+DM%22">Shin DM</searchLink>; Division of Genome Science, Department of Precision Medicine, Korea National Institute of Health, Korea Disease Control and Prevention Agency, Cheongju, Chungbuk, 28159, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Kim+OH%22">Kim OH</searchLink>; Division of Genome Science, Department of Precision Medicine, Korea National Institute of Health, Korea Disease Control and Prevention Agency, Cheongju, Chungbuk, 28159, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Kim+J%22">Kim J</searchLink>; Division of Genome Science, Department of Precision Medicine, Korea National Institute of Health, Korea Disease Control and Prevention Agency, Cheongju, Chungbuk, 28159, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Lee+H%22">Lee H</searchLink>; Department of Integrated Biomedical and Life Science, Korea University, Seoul, 02841, Republic of Korea.; Transdisciplinary Major in Learning Health Systems, Department of Healthcare Sciences, Graduate School, Korea University, Seoul, 02841, Republic of Korea.; BK21FOUR R&E Center for Learning Health Systems, Korea University, Seoul, 02841, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Lee+GH%22">Lee GH</searchLink>; Department of Integrated Biomedical and Life Science, Korea University, Seoul, 02841, Republic of Korea.; Transdisciplinary Major in Learning Health Systems, Department of Healthcare Sciences, Graduate School, Korea University, Seoul, 02841, Republic of Korea.; BK21FOUR R&E Center for Learning Health Systems, Korea University, Seoul, 02841, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22An+JY%22">An JY</searchLink>; Department of Integrated Biomedical and Life Science, Korea University, Seoul, 02841, Republic of Korea.; Transdisciplinary Major in Learning Health Systems, Department of Healthcare Sciences, Graduate School, Korea University, Seoul, 02841, Republic of Korea.; BK21FOUR R&E Center for Learning Health Systems, Korea University, Seoul, 02841, Republic of Korea.; School of Biosystem and Biomedical Science, College of Health Science, Korea University, Seoul, 02841, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Yang+M%22">Yang M</searchLink>; Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, 06351, Republic of Korea.; Cell and Gene Therapy, Samsung Medical Center, Seoul, 06351, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Jo+HS%22">Jo HS</searchLink>; Department of Pediatrics, Kangwon National University School Hospital, Kangwon National University School of Medicine, Chuncheon, 24289, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Jang+JH%22">Jang JH</searchLink>; Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, 06351, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Chang+YS%22">Chang YS</searchLink>; Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, 06351, Republic of Korea.; Cell and Gene Therapy, Samsung Medical Center, Seoul, 06351, Republic of Korea.; Department of Health Sciences and Technology, Samsung Advanced Institute for Health Sciences and Technology, Sungkyunkwan University, Seoul, 06351, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Park+HY%22">Park HY</searchLink>; Korea National Institute of Health, Korea Disease Control and Prevention Agency, Cheongju, 28159, Republic of Korea. hypark65@korea.kr.<br /><searchLink fieldCode="AU" term="%22Park+MH%22">Park MH</searchLink>; Division of Genome Science, Department of Precision Medicine, Korea National Institute of Health, Korea Disease Control and Prevention Agency, Cheongju, Chungbuk, 28159, Republic of Korea. mihyun4868@korea.kr.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22BioMed+Central%22">BioMed Central </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101202210 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1479-7364 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2214739542%22">14739542 </searchLink><i>NLM ISO Abbreviation: </i>Hum Genomics <i>Subsets: </i>MEDLINE
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