利用 VariantValidator 规范文献中的变体命名，提高诊断率

IF 31.7 1区生物学 Q1 GENETICS & HEREDITY

Nature genetics 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

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引用次数: 0

摘要

基因变异的准确命名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（Human Genome Organization）合作，倡导将 VariantValidator 集成到期刊和数据库的出版中，以提高共享基因数据的质量，最终改善患者的治疗效果。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

Standardizing variant naming in literature with VariantValidator to increase diagnostic rates

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Standardizing variant naming in literature with VariantValidator to increase diagnostic rates

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.

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来源期刊

Nature genetics 生物-遗传学

CiteScore

43.00

自引率

2.60%

发文量

241

审稿时长

3 months

期刊介绍： Nature Genetics publishes the very highest quality research in genetics. It encompasses genetic and functional genomic studies on human and plant traits and on other model organisms. Current emphasis is on the genetic basis for common and complex diseases and on the functional mechanism, architecture and evolution of gene networks, studied by experimental perturbation. Integrative genetic topics comprise, but are not limited to: -Genes in the pathology of human disease -Molecular analysis of simple and complex genetic traits -Cancer genetics -Agricultural genomics -Developmental genetics -Regulatory variation in gene expression -Strategies and technologies for extracting function from genomic data -Pharmacological genomics -Genome evolution