Article
Verifying nomenclature of DNA variants in submitted manuscripts: Guidance for journals.
Human mutation - 1 Jan 2021
Higgins Jan, Dalgleish Raymond, den Dunnen Johan T, Barsh Greg, Freeman Peter J, Cooper David N, Cullinan Sara, Davies Kay E, Dorkins Huw, Gong Li, Imoto Issei, Klein Teri E, Korf Bruce, Misra Adya, Paalman Mark H, Ratzel Sarah, Reichardt Juergen K V, Rehm Heidi L, Tokunaga Katsushi, Weck Karen E, Cutting Garry R
Abstract excerpt
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...
Topics
- DNA
- Genetic Variation
- Genome, Human
- Human Genome Project
- Humans
- Periodicals as Topic
- Pilot Projects
- Publications
- Terminology as Topic