改进基因变异报告标准

IF 31.7 1区生物学 Q1 GENETICS & HEREDITY

Nature genetics Pub Date : 2024-11-08 DOI:10.1038/s41588-024-02002-3

引用次数: 0

摘要

数据库和出版物中基因变异体的标准化命名对于确保其可发现性和临床应用至关重要。目前，我们正与人类基因组组织（Human Genome Organization，HUGO）合作，通过在发表文章前使用验证软件来制定变异报告的现场标准。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Improving reporting standards for genetic variants

The standardized naming of gene variants in both databases and publications is crucial to ensure their discoverability and clinical application. Efforts are underway in conjunction with the Human Genome Organization (HUGO) to develop a field standard for variant reporting through the use of validation software prior to publication.

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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