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. |
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| 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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