Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Mov Disord Clin Pract. 2024 May;11(5):594-597. doi: 10.1002/mdc3.13984. Epub 2024 Mar 12.
Genetic testing, including whole genome, whole exome, and other next-generation sequencing technologies, has evolved vastly in the past decade. With this, the number of identified genes and genetic variants is constantly increasing. Although a variety of databases and online tools exist that summarize, categorize, and classify genes, a clear guideline of which information is needed when reporting a gene and what to do when identifying a new gene is lacking. This includes the correct nomenclature, descriptive information about genetic loci and genetic variation, aliases, and correlated phenotypes. This tutorial is meant to serve as an introduction to reporting genes in a paper and provides an overview of available databases and tools to obtain all necessary information on the genes of interest.
在过去的十年中，基因检测（包括全基因组、全外显子组和其他下一代测序技术）有了巨大的发展。随着技术的发展，已鉴定的基因和遗传变异的数量不断增加。虽然有许多数据库和在线工具可以对基因进行总结、分类和分类，但在报告基因时需要哪些信息以及在识别新基因时需要做什么，目前还缺乏明确的指导方针。这包括正确的命名法、有关遗传基因座和遗传变异的描述性信息、别名以及相关表型。本教程旨在介绍在论文中报告基因的方法，并概述可用的数据库和工具，以获取有关感兴趣基因的所有必要信息。
