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Verifying nomenclature of DNA variants in submitted manuscripts: Guidance for journals
Human Mutation ( IF 3.3 ) Pub Date : 2020-11-30 , DOI: 10.1002/humu.24144
Jan Higgins 1 , Raymond Dalgleish 2 , Johan T den Dunnen 3 , Greg Barsh 4, 5 , Peter J Freeman 6 , David N Cooper 7 , Sara Cullinan 8 , Kay E Davies 9 , Huw Dorkins 10, 11 , Li Gong 12 , Issei Imoto 13 , Teri E Klein 12 , Bruce Korf 14 , Adya Misra 15, 16 , Mark H Paalman 17 , Sarah Ratzel 8 , Juergen K V Reichardt 18 , Heidi L Rehm 19, 20, 21 , Katsushi Tokunaga 12, 22 , Karen E Weck 23, 24 , Garry R Cutting 25
Affiliation  

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.

中文翻译:

验证提交稿件中 DNA 变异的命名:期刊指南

记录我们基因组的变异对于研究和临床护理非常重要。因此,准确描述 DNA 变体至关重要。为了解决这个问题,人类变异组计划召集了一个委员会来评估要求作者验证提交出版的所有变异是否符合广泛接受的描述标准的可行性。在对两家期刊进行试点研究后,委员会同意要求作者验证变异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清单迈出的合理一步。
更新日期:2020-12-26
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