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. |
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| 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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| ISSN: | 1479-7364 |
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| DOI: | 10.1186/s40246-025-00778-x |
