| Literature DB >> 33252176 |
Jan Higgins1, Raymond Dalgleish2, Johan T den Dunnen3, Greg Barsh4,5, Peter J Freeman6, David N Cooper7, Sara Cullinan8, Kay E Davies9, Huw Dorkins10,11, Li Gong12, Issei Imoto13, Teri E Klein12, Bruce Korf14, Adya Misra15,16, Mark H Paalman17, Sarah Ratzel8, Juergen K V Reichardt18, Heidi L Rehm19,20,21, Katsushi Tokunaga12,22, Karen E Weck23,24, Garry R Cutting25.
Abstract
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.Entities:
Keywords: ClinVar; DNA variants; Human Genome Variation Society; Leiden Open Variation Database
Mesh：
Substances：
Year: 2020 PMID： 33252176 PMCID： PMC7961887 DOI： 10.1002/humu.24144
Source DB: PubMed Journal: Hum Mutat ISSN： 1059-7794 Impact factor: 4.878