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Toward streamline variant classification: discrepancies in variant nomenclature and syntax for ClinVar pathogenic variants across annotation tools.

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Title: Toward streamline variant classification: discrepancies in variant nomenclature and syntax for ClinVar pathogenic variants across annotation tools.
Authors: Chen YA; Graduate Institute of Medical Genomics and Proteomics, College of Medicine, National Taiwan University, Taipei, 10617, Taiwan.; Department of Medical Genetics, National Taiwan University Hospital, Taipei, 10002, Taiwan., Yuan TH; Genome and Systems Biology Degree Program, Academia Sinica and National Taiwan University, Taipei, 10617, Taiwan.; Taiwan AI Labs, Taipei, 10351, Taiwan., Huang JH; Taiwan AI Labs, Taipei, 10351, Taiwan., Wang YB; Taiwan AI Labs, Taipei, 10351, Taiwan., Hung TM; Taiwan AI Labs, Taipei, 10351, Taiwan., Chen CY; Genome and Systems Biology Degree Program, Academia Sinica and National Taiwan University, Taipei, 10617, Taiwan.; Department of Biomechatronics Engineering, National Taiwan University, Taipei, 10617, Taiwan., Chen PL; Graduate Institute of Medical Genomics and Proteomics, College of Medicine, National Taiwan University, Taipei, 10617, Taiwan. paylong@ntu.edu.tw.; Department of Medical Genetics, National Taiwan University Hospital, Taipei, 10002, Taiwan. paylong@ntu.edu.tw.; Genome and Systems Biology Degree Program, Academia Sinica and National Taiwan University, Taipei, 10617, Taiwan. paylong@ntu.edu.tw.; Division of Endocrinology and Metabolism, Department of Internal Medicine, National Taiwan University Hospital, Taipei, 10002, Taiwan. paylong@ntu.edu.tw.; Graduate Institute of Clinical Medicine, College of Medicine, National Taiwan University, Taipei, 10617, Taiwan. paylong@ntu.edu.tw., Hsu JS; Graduate Institute of Medical Genomics and Proteomics, College of Medicine, National Taiwan University, Taipei, 10617, Taiwan. jacobhsu@ntu.edu.tw.; Genome and Systems Biology Degree Program, Academia Sinica and National Taiwan University, Taipei, 10617, Taiwan. jacobhsu@ntu.edu.tw.
Source: Human genomics [Hum Genomics] 2025 Jun 21; Vol. 19 (1), pp. 70. Date of Electronic Publication: 2025 Jun 21.
Publication Type: Journal Article
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: Toward streamline variant classification: discrepancies in variant nomenclature and syntax for ClinVar pathogenic variants across annotation tools.
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  Data: <searchLink fieldCode="AU" term="%22Chen+YA%22">Chen YA</searchLink>; Graduate Institute of Medical Genomics and Proteomics, College of Medicine, National Taiwan University, Taipei, 10617, Taiwan.; Department of Medical Genetics, National Taiwan University Hospital, Taipei, 10002, Taiwan.<br /><searchLink fieldCode="AU" term="%22Yuan+TH%22">Yuan TH</searchLink>; Genome and Systems Biology Degree Program, Academia Sinica and National Taiwan University, Taipei, 10617, Taiwan.; Taiwan AI Labs, Taipei, 10351, Taiwan.<br /><searchLink fieldCode="AU" term="%22Huang+JH%22">Huang JH</searchLink>; Taiwan AI Labs, Taipei, 10351, Taiwan.<br /><searchLink fieldCode="AU" term="%22Wang+YB%22">Wang YB</searchLink>; Taiwan AI Labs, Taipei, 10351, Taiwan.<br /><searchLink fieldCode="AU" term="%22Hung+TM%22">Hung TM</searchLink>; Taiwan AI Labs, Taipei, 10351, Taiwan.<br /><searchLink fieldCode="AU" term="%22Chen+CY%22">Chen CY</searchLink>; Genome and Systems Biology Degree Program, Academia Sinica and National Taiwan University, Taipei, 10617, Taiwan.; Department of Biomechatronics Engineering, National Taiwan University, Taipei, 10617, Taiwan.<br /><searchLink fieldCode="AU" term="%22Chen+PL%22">Chen PL</searchLink>; Graduate Institute of Medical Genomics and Proteomics, College of Medicine, National Taiwan University, Taipei, 10617, Taiwan. paylong@ntu.edu.tw.; Department of Medical Genetics, National Taiwan University Hospital, Taipei, 10002, Taiwan. paylong@ntu.edu.tw.; Genome and Systems Biology Degree Program, Academia Sinica and National Taiwan University, Taipei, 10617, Taiwan. paylong@ntu.edu.tw.; Division of Endocrinology and Metabolism, Department of Internal Medicine, National Taiwan University Hospital, Taipei, 10002, Taiwan. paylong@ntu.edu.tw.; Graduate Institute of Clinical Medicine, College of Medicine, National Taiwan University, Taipei, 10617, Taiwan. paylong@ntu.edu.tw.<br /><searchLink fieldCode="AU" term="%22Hsu+JS%22">Hsu JS</searchLink>; Graduate Institute of Medical Genomics and Proteomics, College of Medicine, National Taiwan University, Taipei, 10617, Taiwan. jacobhsu@ntu.edu.tw.; Genome and Systems Biology Degree Program, Academia Sinica and National Taiwan University, Taipei, 10617, Taiwan. jacobhsu@ntu.edu.tw.
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  Data: <searchLink fieldCode="JN" term="%22101202210%22">Human genomics</searchLink> [Hum Genomics] 2025 Jun 21; Vol. 19 (1), pp. 70. <i>Date of Electronic Publication: </i>2025 Jun 21.
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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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              Text: 2025 Jun 21
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