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Standardizing variant naming in literature with VariantValidator to increase diagnostic rates
Nature Genetics ( IF 31.7 ) Pub Date : 2024-10-02 , DOI: 10.1038/s41588-024-01938-w Peter J. Freeman, John F. Wagstaff, Ivo F. A. C. Fokkema, Garry R. Cutting, Heidi L. Rehm, Angela C. Davies, Johan T. den Dunnen, Liam J. Gretton, Raymond Dalgleish
Nature Genetics ( IF 31.7 ) Pub Date : 2024-10-02 , DOI: 10.1038/s41588-024-01938-w Peter J. Freeman, John F. Wagstaff, Ivo F. A. C. Fokkema, Garry R. Cutting, Heidi L. Rehm, Angela C. Davies, Johan T. den Dunnen, Liam J. Gretton, Raymond Dalgleish
Accurate naming of genetic variants is essential to identify clinical data that interpret the consequences of such variants. In partnership with the Human Genome Organization, we advocate for integration of VariantValidator in publishing of journals and databases, to improve the quality of shared genetic data and ultimately patient outcomes.
中文翻译:
使用 VariantValidator 标准化文献中的变体命名以提高诊断率
准确命名遗传变异对于识别解释此类变异后果的临床数据至关重要。我们与人类基因组组织合作,倡导将 VariantValidator 集成到期刊和数据库的出版中,以提高共享遗传数据的质量,并最终提高患者预后。
更新日期:2024-10-02
中文翻译:
使用 VariantValidator 标准化文献中的变体命名以提高诊断率
准确命名遗传变异对于识别解释此类变异后果的临床数据至关重要。我们与人类基因组组织合作,倡导将 VariantValidator 集成到期刊和数据库的出版中,以提高共享遗传数据的质量,并最终提高患者预后。