American College of Medical Genetics and Genomics, Bethesda, Maryland, USA.
Department of Genetics and Genome Biology, University of Leicester, Leicester, UK.
Hum Mutat. 2021 Jan;42(1):3-7. doi: 10.1002/humu.24144. Epub 2020 Dec 10.
Documenting variation in our genomes is important for research and clinical care. Accuracy in the description of DNA variants is therefore essential. To address this issue, the Human Variome Project convened a committee to evaluate the feasibility of requiring authors to verify that all variants submitted for publication complied with a widely accepted standard for description. After a pilot study of two journals, the committee agreed that requiring authors to verify that variants complied with Human Genome Variation Society nomenclature is a reasonable step toward standardizing the worldwide inventory of human variation.
记录我们基因组中的变异对于研究和临床护理非常重要。因此，准确描述 DNA 变异至关重要。为了解决这个问题，人类变异组计划召集了一个委员会，评估要求作者验证提交出版的所有变体是否符合广泛接受的描述标准的可行性。在对两种期刊进行试点研究后，委员会一致认为，要求作者验证变体是否符合人类基因组变异协会命名法，是朝着标准化全球人类变异目录迈出的合理一步。
